15 Matching Annotations
  1. Jul 2023
  2. www.sciencedirect.com www.sciencedirect.com
    Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans
    1
    1. scibot 15 Jul 2023
      RRID:SCR_010777

      DOI: 10.1016/j.isci.2023.107193

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    sciencedirect.com/science/article/pii/S2589004223012701
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
    1
    1. scibot 06 Jul 2023
      RRID:SCR_010777

      DOI: 10.7554/eLife.85649

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  4. Jun 2023
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy
    1
    1. scibot 10 Jun 2023
      RRID:SCR_010777

      DOI: 10.1002/mgg3.2202

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2202
  6. Feb 2023
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
    1
    1. scibot 08 Feb 2023
      RRID:SCR_010777

      DOI: 10.1002/mgg3.2146

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  8. Apr 2022
  9. journals.physiology.org journals.physiology.org
    Whole genome sequencing identifies a deletion mutation in the unknown-functional KCNG2 from familial sick sinus syndrome
    1
    1. scibot 29 Apr 2022
      SCR_010777

      DOI: 10.1152/physiolgenomics.00132.2021

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    journals.physiology.org/doi/full/10.1152/physiolgenomics.00132.2021
  10. link.springer.com link.springer.com
    Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome
    1
    1. scibot 23 Apr 2022
      RRID:SCR_010777

      DOI: 10.1007/s13258-022-01249-6

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    link.springer.com/article/10.1007/s13258-022-01249-6
  11. link.springer.com link.springer.com
    Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy
    1
    1. scibot 14 Apr 2022
      RRID:SCR_010777

      DOI: 10.1186/s13046-022-02333-1

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    link.springer.com/article/10.1186/s13046-022-02333-1
  12. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
    1
    1. scibot 06 Apr 2022
      RRID:SCR_010777

      DOI: 10.1530/EJE-21-0097

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  13. Oct 2021
  14. link.springer.com link.springer.com
    Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
    1
    1. scibot 05 Oct 2021
      RRID:SCR_010777

      DOI: 10.1007/s00439-021-02372-2

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @scibot

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    link.springer.com/article/10.1007/s00439-021-02372-2
  15. Jul 2021
  16. www.sciencedirect.com www.sciencedirect.com
    Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
    2
    1. scibot 27 Jul 2021
      nlx_149228

      DOI: 10.1016/j.ajhg.2015.10.013

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @gabimpine

      SciCrunch record: RRID:SCR_010777

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      RRIDCUR:Unrecognized RRID:SCR_010777
    2. scibot 27 Jul 2021
      OMICS_00153

      DOI: 10.1016/j.ajhg.2015.10.013

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @gabimpine

      SciCrunch record: RRID:SCR_010777

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      RRIDCUR:Unrecognized RRID:SCR_010777
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    sciencedirect.com/science/article/pii/S0002929715004152
  17. May 2021
  18. www.sciencedirect.com www.sciencedirect.com
    Identification of genetic biomarkers in urine for early detection of prostate cancer
    1
    1. scibot 04 May 2021
      RRID: SCR_010777

      DOI: 10.1016/j.currproblcancer.2020.100616

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777
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    sciencedirect.com/science/article/pii/S0147027220301033
  19. Mar 2021
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
    1
    1. scibot 09 Mar 2021
      RRID:SCR_010777

      DOI: 10.3389/fgene.2021.619950

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @evieth

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  21. Sep 2020
  22. link.springer.com link.springer.com
    Prediction and in silico validation of MYH7 gene missense variants in the Iranian population: a bioinformatics analysis based on Iranome database
    1
    1. scibot 09 Sep 2020
      RRID:SCR_010777

      DOI: 10.1186/s43042-020-00058-4

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @ethanbadger

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777 RRIDCUR:Validated
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    link.springer.com/article/10.1186/s43042-020-00058-4
  23. Jan 2020
  24. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation and epilepsy
    1
    1. scibot 13 Jan 2020
      RRID:SCR_010777

      DOI: 10.1111/jnc.14828

      Resource: MutationTaster (RRID:SCR_010777)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_010777

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      RRID:SCR_010777 RRIDCUR:Validated
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    onlinelibrary.wiley.com/doi/abs/10.1111/jnc.14828