9 Matching Annotations
  1. Sep 2020
  2. localhost:8001 localhost:8001
    https://localhost:8001/test.html
    3
    1. judell 16 Sep 2020

      variant id lookup result: http://localhost:8001/test.html

      ClinGen variantLookup variant:426075 variantLookup:individual individual:1 gene:TMEM260
    2. judell 16 Sep 2020
      truncus arteriosus

      Monarch lookup result: http://localhost:8001/test.html

      ClinGen hpoLookup monarchLookup HP:0001660 hpoLookup:individual individual:1 gene:TMEM260
    3. judell 16 Sep 2020
      TMEM260
      ClinGen gene:TMEM260 pmid:30057029
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    localhost:8001/test.html
  3. Jun 2018
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
    5
    1. cthaxton 27 Jun 2018
      heart murmur

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030148

      ClinGen hpoLookup monarchLookup gene:TMEM260
    2. cthaxton 27 Jun 2018
      cyanosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000961

      ClinGen hpoLookup monarchLookup gene:TMEM260
    3. cthaxton 27 Jun 2018
      pulmonary venous return

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010772

      ClinGen hpoLookup monarchLookup gene:TMEM260
    4. cthaxton 27 Jun 2018
      truncus arteriosus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001660

      ClinGen hpoLookup monarchLookup gene:TMEM260
    5. cthaxton 27 Jun 2018
      TMEM260
      ClinGen gene:TMEM260 pmid:28318500 doi:10.1016/j.ajhg.2017.02.007
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    ncbi.nlm.nih.gov/pmc/articles/PMC5384036/