185 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0960896613009826
    3
    1. may_flowers 22 Jan 2020
      high arched palate

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218

      ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TPM3 case:notHPO
    2. may_flowers 22 Jan 2020
      TPM3
      ClinGen gene:TPM3 pmid:undefined
    3. may_flowers 15 Jan 2020
      axial muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327

      ClinGen hpoLookup monarchLookup HP:0003327 hpoLookup:individual individual:2 gene:SGCG
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    sciencedirect.com/science/article/pii/S0960896613009826
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth
    1
    1. may_flowers 15 Jan 2020
      HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth

      PMID: 26160855

      Gene: HACD1

      Disease: Congenital Myopathy

      ClinGen General HACD1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4589950/
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0960896613009826?via%3Dihub
    1
    1. may_flowers 15 Jan 2020
      Gowers’ sign

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391

      ClinGen hpoLookup monarchLookup HP:0003391 hpoLookup:individual individual:1 gene:SGCG
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    sciencedirect.com/science/article/pii/S0960896613009826
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress
    3
    1. may_flowers 08 Jan 2020
      Blood

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0410211

      ClinGen hpoLookup monarchLookup HP:0410211 hpoLookup:individual individual:1 gene:SGCG
    2. may_flowers 08 Jan 2020
      fiber degeneration

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295

      ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:SGCG
    3. may_flowers 08 Jan 2020
      SGCG
      ClinGen gene:SGCG pmid:31194043
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6545357/
  6. reg.clinicalgenome.org reg.clinicalgenome.org
    http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
    1
    1. may_flowers 06 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549

      ClinGen alleleLookup allele:CA915940549 alleleLookup:individual individual:7 gene:TAOK1
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  7. reg.clinicalgenome.org reg.clinicalgenome.org
    http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
    1
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343

      ClinGen alleleLookup allele:CA398917343 alleleLookup:individual individual:8 gene:TAOK1
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  8. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    74
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115

      ClinGen alleleLookup allele:CA399189115 alleleLookup:individual individual:6 gene:TAOK1
    2. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709

      ClinGen alleleLookup allele:CA399196709 alleleLookup:individual individual:5 gene:TAOK1
    3. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284

      ClinGen alleleLookup allele:CA398915284 alleleLookup:individual individual:3 gene:TAOK1
    4. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661

      ClinGen alleleLookup allele:CA399193661 alleleLookup:individual individual:2 gene:TAOK1
    5. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143

      ClinGen alleleLookup allele:CA399185143 alleleLookup:individual individual:1 gene:TAOK1
    6. may_flowers 05 Jan 2020
      down-slanting eyelid

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006

      ClinGen hpoLookup monarchLookup HP:0200006 hpoLookup:individual individual:6 gene:TAOK1
    7. may_flowers 05 Jan 2020
      short proximal extremities

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815

      ClinGen hpoLookup monarchLookup HP:0009815 hpoLookup:individual individual:6 gene:TAOK1
    8. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947

      ClinGen hpoLookup monarchLookup HP:0001947 hpoLookup:individual individual:3 gene:TAOK1
    9. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942

      ClinGen hpoLookup monarchLookup HP:0001942 hpoLookup:individual individual:3 gene:TAOK1
    10. may_flowers 05 Jan 2020
      8

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763

      ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:8 gene:TAOK1
    11. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763

      ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:5 gene:TAOK1
    12. may_flowers 05 Jan 2020
      8

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382

      ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:8 gene:TAOK1
    13. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382

      ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:5 gene:TAOK1
    14. may_flowers 05 Jan 2020
      4

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415

      ClinGen hpoLookup monarchLookup HP:0002415 hpoLookup:individual individual:4 gene:TAOK1
    15. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175

      ClinGen hpoLookup monarchLookup HP:0000175 hpoLookup:individual individual:6 gene:TAOK1
    16. may_flowers 05 Jan 2020
      8

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705

      ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:8 gene:TAOK1
    17. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705

      ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:5 gene:TAOK1
    18. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705

      ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:3 gene:TAOK1
    19. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:6 gene:TAOK1
    20. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:5 gene:TAOK1
    21. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:3 gene:TAOK1
    22. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325

      ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:3 gene:TAOK1
    23. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322

      ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:TAOK1
    24. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280

      ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:2 gene:TAOK1
    25. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:6 gene:TAOK1
    26. may_flowers 05 Jan 2020
      8

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:8 gene:TAOK1
    27. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:6 gene:TAOK1
    28. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:5 gene:TAOK1
    29. may_flowers 05 Jan 2020
      3

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:3 gene:TAOK1
    30. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003

      ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:6 gene:TAOK1
    31. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003

      ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:2 gene:TAOK1
    32. may_flowers 05 Jan 2020
      macrocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:6 gene:TAOK1
    33. may_flowers 05 Jan 2020
      macrocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:3 gene:TAOK1
    34. may_flowers 05 Jan 2020
      macrocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:2 gene:TAOK1
    35. may_flowers 05 Jan 2020
      7

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717

      ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:7 gene:TAOK1
    36. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717

      ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:2 gene:TAOK1
    37. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736

      ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:5 gene:TAOK1
    38. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736

      ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:1 gene:TAOK1
    39. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:5 gene:TAOK1
    40. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:1 gene:TAOK1
    41. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265

      ClinGen hpoLookup monarchLookup HP:0001265 hpoLookup:individual individual:5 gene:TAOK1
    42. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639

      ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:1 gene:TAOK1
    43. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540

      ClinGen hpoLookup monarchLookup HP:0000540 hpoLookup:individual individual:1 gene:TAOK1
    44. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505

      ClinGen hpoLookup monarchLookup HP:0000505 hpoLookup:individual individual:1 gene:TAOK1
    45. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407

      ClinGen hpoLookup monarchLookup HP:0000407 hpoLookup:individual individual:1 gene:TAOK1
    46. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:8 gene:TAOK1
    47. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:7 gene:TAOK1
    48. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:6 gene:TAOK1
    49. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:5 gene:TAOK1
    50. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:2 gene:TAOK1
    51. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TAOK1
    52. may_flowers 05 Jan 2020
      seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:4 gene:TAOK1
    53. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:7 gene:TAOK1
    54. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:6 gene:TAOK1
    55. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:TAOK1
    56. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:TAOK1
    57. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:8 gene:TAOK1
    58. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:7 gene:TAOK1
    59. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:6 gene:TAOK1
    60. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:5 gene:TAOK1
    61. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:2 gene:TAOK1
    62. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:1 gene:TAOK1
    63. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:8 gene:TAOK1
    64. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:7 gene:TAOK1
    65. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:6 gene:TAOK1
    66. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:2 gene:TAOK1
    67. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:TAOK1
    68. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:7 gene:TAOK1
    69. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:6 gene:TAOK1
    70. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:TAOK1
    71. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:TAOK1
    72. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:TAOK1
    73. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:TAOK1
    74. may_flowers 05 Jan 2020
      TAOK1
      ClinGen gene:TAOK1 pmid:undefined
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    sciencedirect.com/science/article/pii/S0002929719301910
  9. reg.clinicalgenome.org reg.clinicalgenome.org
    http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
    1
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709

      ClinGen alleleLookup allele:CA399193709 alleleLookup:individual individual:4 gene:TAOK1
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  10. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    12
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
    2. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
    3. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
    4. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:2 gene:DNAH17
    5. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/

      ClinGen variantLookup variant:692268 variantLookup:individual individual:1 gene:DNAH17
    6. may_flowers 05 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224

      ClinGen alleleLookup allele:CA8805224 alleleLookup:individual individual:1 gene:DNAH17
    7. may_flowers 05 Jan 2020
      absent

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032558

      ClinGen hpoLookup monarchLookup HP:0032558 hpoLookup:group group:1 gene:DNAH17
    8. may_flowers 05 Jan 2020
      coiled

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032560

      ClinGen hpoLookup monarchLookup HP:0032560 hpoLookup:group group:1 gene:DNAH17
    9. may_flowers 05 Jan 2020
      short

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032559

      ClinGen hpoLookup monarchLookup HP:0032559 hpoLookup:group group:1 gene:DNAH17
    10. may_flowers 05 Jan 2020
      asthenozoospermia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012207

      ClinGen hpoLookup monarchLookup HP:0012207 hpoLookup:group group:1 gene:DNAH17
    11. may_flowers 05 Jan 2020
      primary infertility

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251

      ClinGen hpoLookup monarchLookup HP:0003251 hpoLookup:individual individual:1 gene:DNAH17
    12. may_flowers 05 Jan 2020
      DNAH17
      ClinGen gene:DNAH17 pmid:undefined
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    sciencedirect.com/science/article/pii/S0002929719301636
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
    2
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
    2. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:1 gene:DNAH17
    Visit annotations in context

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    ncbi.nlm.nih.gov/clinvar/variation/692266/
  12. Dec 2019
  13. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    37
    1. may_flowers 20 Dec 2019
      acute respiratory failure

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093

      ClinGen hpoLookup monarchLookup HP:0002093 hpoLookup:individual individual:1 gene:RINT1
    2. may_flowers 20 Dec 2019
      coagulopathy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003256

      ClinGen hpoLookup monarchLookup HP:0003256 hpoLookup:group group:1 gene:RINT1
    3. may_flowers 20 Dec 2019
      hyperammonemia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001987

      ClinGen hpoLookup monarchLookup HP:0001987 hpoLookup:group group:1 gene:RINT1
    4. may_flowers 20 Dec 2019
      54.0 cm (99th percentile)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517

      ClinGen hpoLookup monarchLookup HP:0003517 hpoLookup:individual individual:2 gene:RINT1
    5. may_flowers 20 Dec 2019
      2 cm (in acute setting)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001744

      ClinGen hpoLookup monarchLookup HP:0001744 hpoLookup:individual individual:3 gene:RINT1
    6. may_flowers 20 Dec 2019
      hyperechoic cortex of both kidneys

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004719

      ClinGen hpoLookup monarchLookup HP:0004719 hpoLookup:individual individual:3 gene:RINT1
    7. may_flowers 20 Dec 2019
      aortic insufficiency

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659

      ClinGen hpoLookup monarchLookup HP:0001659 hpoLookup:individual individual:3 gene:RINT1
    8. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:2 gene:RINT1
    9. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:1 gene:RINT1
    10. may_flowers 20 Dec 2019
      Platyspondyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926

      ClinGen hpoLookup monarchLookup HP:0000926 hpoLookup:individual individual:1 gene:RINT1
    11. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001395

      ClinGen hpoLookup monarchLookup HP:0001395 hpoLookup:individual individual:1 gene:RINT1
    12. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397

      ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:2 gene:RINT1
    13. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397

      ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:1 gene:RINT1
    14. may_flowers 20 Dec 2019
      <3rd percentile

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322

      ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:2 gene:RINT1
    15. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/

      ClinGen variantLookup variant:547946 variantLookup:individual individual:1 gene:RINT1
    16. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/

      ClinGen variantLookup variant:692227 variantLookup:individual individual:2 gene:RINT1
    17. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/

      ClinGen variantLookup variant:547947 variantLookup:individual individual:1 gene:RINT1
    18. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/

      ClinGen variantLookup variant:547947 variantLookup:individual individual:3 gene:RINT1
    19. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/

      ClinGen variantLookup variant:599396 variantLookup:individual individual:3 gene:RINT1
    20. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/

      ClinGen variantLookup variant:692228 variantLookup:individual individual:2 gene:RINT1
    21. may_flowers 19 Dec 2019
      Abnormal femoral head epiphysis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010574

      ClinGen hpoLookup monarchLookup HP:0010574 hpoLookup:group group:1 gene:RINT1
    22. may_flowers 19 Dec 2019
      Irregular vertebrae

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004582

      ClinGen hpoLookup monarchLookup HP:0004582 hpoLookup:group group:1 gene:RINT1
    23. may_flowers 19 Dec 2019
      Hypoplastic vertebrae

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008417

      ClinGen hpoLookup monarchLookup HP:0008417 hpoLookup:group group:1 gene:RINT1
    24. may_flowers 19 Dec 2019
      INR

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151

      ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
    25. may_flowers 19 Dec 2019
      RALF

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006554

      ClinGen hpoLookup monarchLookup HP:0006554 hpoLookup:group group:1 gene:RINT1
    26. may_flowers 19 Dec 2019
      Hepatomegaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002240

      ClinGen hpoLookup monarchLookup HP:0002240 hpoLookup:group group:1 gene:RINT1
    27. may_flowers 19 Dec 2019
      Prothrombin time

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151

      ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
    28. may_flowers 19 Dec 2019
      Total bilirubin

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003573

      ClinGen hpoLookup monarchLookup HP:0003573 hpoLookup:group group:1 gene:RINT1
    29. may_flowers 19 Dec 2019
      AST

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031956

      ClinGen hpoLookup monarchLookup HP:0031956 hpoLookup:group group:1 gene:RINT1
    30. may_flowers 19 Dec 2019
      ALT

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031964

      ClinGen hpoLookup monarchLookup HP:0031964 hpoLookup:group group:1 gene:RINT1
    31. may_flowers 19 Dec 2019
      Glucose

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943

      ClinGen hpoLookup monarchLookup HP:0001943 hpoLookup:group group:1 gene:RINT1
    32. may_flowers 19 Dec 2019
      Splenomegaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006268

      ClinGen hpoLookup monarchLookup HP:0006268 hpoLookup:individual individual:1 gene:RINT1
    33. may_flowers 19 Dec 2019
      <3rd percentile

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322

      ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:1 gene:RINT1
    34. may_flowers 19 Dec 2019
      elevated methionine

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003235

      ClinGen hpoLookup monarchLookup HP:0003235 hpoLookup:individual individual:1 gene:RINT1
    35. may_flowers 19 Dec 2019
      talipes equinovarus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762

      ClinGen hpoLookup monarchLookup HP:0001762 hpoLookup:individual individual:1 gene:RINT1
    36. may_flowers 19 Dec 2019
      Neonatal jaundice

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006579

      ClinGen hpoLookup monarchLookup HP:0006579 hpoLookup:individual individual:1 gene:RINT1
    37. may_flowers 19 Dec 2019
      RINT1
      ClinGen gene:RINT1 pmid:undefined
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0002929719301983
  14. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    33
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634925/

      ClinGen variantLookup variant:634925 variantLookup:family family:2 gene:NUP214
    2. may_flowers 19 Dec 2019
      failure to thrive

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508

      ClinGen hpoLookup monarchLookup HP:0001508 hpoLookup:individual individual:4 gene:NUP214
    3. may_flowers 19 Dec 2019
      hyperkinetic

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487

      ClinGen hpoLookup monarchLookup HP:0002487 hpoLookup:individual individual:3 gene:NUP214
    4. may_flowers 19 Dec 2019
      nystagmus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639

      ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:3 gene:NUP214
    5. may_flowers 19 Dec 2019
      right esotropia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000565

      ClinGen hpoLookup monarchLookup HP:0000565 hpoLookup:individual individual:2 gene:NUP214
    6. may_flowers 19 Dec 2019
      cortical edema

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002181

      ClinGen hpoLookup monarchLookup HP:0002181 hpoLookup:individual individual:2 gene:NUP214
    7. may_flowers 19 Dec 2019
      downward gaze deviation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0025330

      ClinGen hpoLookup monarchLookup HP:0025330 hpoLookup:individual individual:2 gene:NUP214
    8. may_flowers 19 Dec 2019
      tongue thrusting

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100703

      ClinGen hpoLookup monarchLookup HP:0100703 hpoLookup:individual individual:2 gene:NUP214
    9. may_flowers 19 Dec 2019
      axial hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936

      ClinGen hpoLookup monarchLookup HP:0008936 hpoLookup:individual individual:2 gene:NUP214
    10. may_flowers 16 Dec 2019
      appendicular spasticity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001257

      ClinGen hpoLookup monarchLookup HP:0001257 hpoLookup:individual individual:1 gene:NUP214
    11. may_flowers 16 Dec 2019
      could not verbalize

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002300

      ClinGen hpoLookup monarchLookup HP:0002300 hpoLookup:individual individual:1 gene:NUP214
    12. may_flowers 16 Dec 2019
      lost voluntary mobility

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003470

      ClinGen hpoLookup monarchLookup HP:0003470 hpoLookup:individual individual:1 gene:NUP214
    13. may_flowers 16 Dec 2019
      bilateral nonsynchronous spikes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002353

      ClinGen hpoLookup monarchLookup HP:0002353 hpoLookup:individual individual:1 gene:NUP214
    14. may_flowers 16 Dec 2019
      short non-provoked generalized tonic-clonic seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002069

      ClinGen hpoLookup monarchLookup HP:0002069 hpoLookup:individual individual:1 gene:NUP214
    15. may_flowers 16 Dec 2019
      intractable epilepsy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:1 gene:NUP214
    16. may_flowers 16 Dec 2019
      ataxia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251

      ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:individual individual:1 gene:NUP214
    17. may_flowers 16 Dec 2019
      status epilepticus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002133

      ClinGen hpoLookup monarchLookup HP:0002133 hpoLookup:family family:2 gene:NUP214
    18. may_flowers 16 Dec 2019
      Hyponatremia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902

      ClinGen hpoLookup monarchLookup HP:0002902 hpoLookup:family family:2 gene:NUP214
    19. may_flowers 16 Dec 2019
      Cerebellar atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272

      ClinGen hpoLookup monarchLookup HP:0001272 hpoLookup:family family:2 gene:NUP214
    20. may_flowers 16 Dec 2019
      Myoclonic jerks

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336

      ClinGen hpoLookup monarchLookup HP:0001336 hpoLookup:family family:2 gene:NUP214
    21. may_flowers 16 Dec 2019
      Ataxia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251

      ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:family family:2 gene:NUP214
    22. may_flowers 16 Dec 2019
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:family family:2 gene:NUP214
    23. may_flowers 16 Dec 2019
      Progressive microcephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253

      ClinGen hpoLookup monarchLookup HP:0000253 hpoLookup:family family:2 gene:NUP214
    24. may_flowers 16 Dec 2019
      Developmental regression

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376

      ClinGen hpoLookup monarchLookup HP:0002376 hpoLookup:family family:2 gene:NUP214
    25. may_flowers 16 Dec 2019
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:family family:2 gene:NUP214
    26. may_flowers 16 Dec 2019
      Myoclonic jerks

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336

      ClinGen hpoLookup monarchLookup HP:0001336 hpoLookup:family family:1 gene:NUP214
    27. may_flowers 16 Dec 2019
      encephalopathy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001298

      ClinGen hpoLookup monarchLookup HP:0001298 hpoLookup:family family:1 gene:NUP214
    28. may_flowers 16 Dec 2019
      Hyponatremia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902

      ClinGen hpoLookup monarchLookup HP:0002902 hpoLookup:family family:1 gene:NUP214
    29. may_flowers 16 Dec 2019
      Cerebellar atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272

      ClinGen hpoLookup monarchLookup HP:0001272 hpoLookup:family family:1 gene:NUP214
    30. may_flowers 16 Dec 2019
      Progressive microcephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253

      ClinGen hpoLookup monarchLookup HP:0000253 hpoLookup:family family:1 gene:NUP214
    31. may_flowers 16 Dec 2019
      Developmental regression

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376

      ClinGen hpoLookup monarchLookup HP:0002376 hpoLookup:family family:1 gene:NUP214
    32. may_flowers 16 Dec 2019
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:family family:1 gene:NUP214
    33. may_flowers 16 Dec 2019
      NUP214
      ClinGen gene:NUP214 pmid:undefined
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0002929719301892
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
    2
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634924/

      ClinGen variantLookup variant:634924 variantLookup:family family:2 gene:NUP214
    2. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/

      ClinGen variantLookup variant:545116 variantLookup:family family:1 gene:NUP214
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/clinvar/variation/545116/
  16. monarchinitiative.org monarchinitiative.org
    https://monarchinitiative.org/disease/MONDO:0005027
    1
    1. may_flowers 16 Dec 2019

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:family family:2 gene:NUP214
    Visit annotations in context

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    URL

    monarchinitiative.org/disease/MONDO:0005027
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
    3
    1. may_flowers 16 Dec 2019
      atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0003202

      ClinGen hpoLookup monarchLookup HP%3A0003202 hpoLookup:individual individual:1 gene:SGCA
    2. may_flowers 16 Dec 2019
      progressive muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003323

      ClinGen hpoLookup monarchLookup HP:0003323 hpoLookup:individual individual:1 gene:SGCA
    3. may_flowers 16 Dec 2019
      SGCA
      ClinGen gene:SGCA pmid:30764848
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
  18. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    1
    1. may_flowers 13 Dec 2019
      NKAP
      ClinGen gene:NKAP pmid:undefined
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    URL

    sciencedirect.com/science/article/pii/S0002929719303489
  19. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302733?via%3Dihub
    1
    1. may_flowers 05 Dec 2019
      Rare De Novo

      Tesitng

    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0002929719302733
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
    1
    1. may_flowers 05 Dec 2019
      TPM2
      ClinGen gene:TPM2 pmid:24692096
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200603/?AAAGH
    1
    1. may_flowers 05 Dec 2019
      TPM2
      ClinGen gene:TPM2 pmid:24692096
    Visit annotations in context

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    ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
  22. Oct 2019
  23. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
    5
    1. may_flowers 07 Oct 2019
      aminoaciduria

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355

      ClinGen hpoLookup monarchLookup HP:0003355 hpoLookup:individual individual:1 gene:SLC1A1
    2. may_flowers 07 Oct 2019
      aspartate level

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899

      ClinGen hpoLookup monarchLookup HP:0010899 hpoLookup:individual individual:1 gene:SLC1A1
    3. may_flowers 07 Oct 2019
      obsessive-compulsive trait

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770

      ClinGen hpoLookup monarchLookup HP:0008770 hpoLookup:individual individual:1 gene:SLC1A1
    4. may_flowers 07 Oct 2019
      kidney stones

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787

      ClinGen hpoLookup monarchLookup HP:0000787 hpoLookup:individual individual:1 gene:SLC1A1
    5. may_flowers 07 Oct 2019
      SLC1A1
      ClinGen gene:SLC1A1 pmid:21123949
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
  24. Aug 2019
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC26779/
    1
    1. may_flowers 27 Aug 2019
      NEB
      ClinGen gene:NEB pmid:10051637
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    ncbi.nlm.nih.gov/pmc/articles/PMC26779/