10 Matching Annotations
  1. Oct 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
    1
    1. scibot 26 Oct 2022
      RRID:SCR_001888

      DOI: 10.3389/fphar.2022.931089

      Resource: HGMD (RRID:SCR_001888)

      Curator: @scibot

      SciCrunch record: RRID:SCR_001888

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      RRID:SCR_001888
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    ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
  3. Aug 2022
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Serum metabolomic characterization of PLA2G6-associated dystonia–parkinsonism: A case-control biomarker study
    1
    1. scibot 27 Aug 2022
      RRID:SCR_001888

      DOI: 10.3389/fnins.2022.879548

      Resource: HGMD (RRID:SCR_001888)

      Curator: @scibot

      SciCrunch record: RRID:SCR_001888

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      RRID:SCR_001888
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    ncbi.nlm.nih.gov/pmc/articles/PMC9406281/
  5. Aug 2021
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 11 Aug 2021
      RRID:SCR_001888

      DOI: 10.1002/brb3.1180

      Resource: HGMD (RRID:SCR_001888)

      Curator: @scibot

      SciCrunch record: RRID:SCR_001888

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      RRID:SCR_001888
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    ncbi.nlm.nih.gov/pmc/articles/PMC6346667/
  7. Mar 2021
  8. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    1. scibot 03 Mar 2021
      RRID:SCR_001888

      DOI: 10.1093/hmg/ddaa268

      Resource: HGMD (RRID:SCR_001888)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_001888

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      RRID:SCR_001888 RRIDCUR:Validated
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    academic.oup.com/hmg/article/29/22/3679/6035190
  9. Sep 2020
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract
    1
    1. scibot 26 Sep 2020
      RRID:SCR_001888

      DOI: 10.1371/journal.pone.0227859

      Resource: HGMD (RRID:SCR_001888)

      Curator: @evieth

      SciCrunch record: RRID:SCR_001888

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      RRID:SCR_001888 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  11. www.sciencedirect.com www.sciencedirect.com
    Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss
    1
    1. scibot 16 Sep 2020
      RRID:SCR_001888

      DOI: 10.1016/j.csbj.2020.05.025

      Resource: HGMD (RRID:SCR_001888)

      Curator: @ethanbadger

      SciCrunch record: RRID:SCR_001888

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      RRID:SCR_001888 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S2001037020302889
  12. Jan 2020
  13. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 13 Jan 2020
      RRID:SCR_001888

      DOI: 10.1002/brb3.1180

      Resource: HGMD (RRID:SCR_001888)

      Curator: @evieth

      SciCrunch record: RRID:SCR_001888

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      RRID:SCR_001888 RRIDCUR:Validated
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  14. May 2019
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
    1
    1. scibot 02 May 2019
      nif-0000-10459

      Curator: @gabimpine

      Resource used:

      (HGMD, RRID:SCR_001888)

      SciCrunch record: RRID:nif-0000-10459

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_001888 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC4916229/
  16. Nov 2018
  17. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 05 Nov 2018
      RRID:SCR_001888

      Curator: @evieth

      Resource used:

      (HGMD, RRID:SCR_001888)

      SciCrunch record: RRID:SCR_001888

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_001888 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1550413118306302
  18. Nov 2017
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Olfaction in Parkin carriers in Chinese patients with Parkinson disease
    1
    1. scibot 08 Nov 2017
      SCR_001888

      Curator: @chewbeccax

      Resource used:

      (HGMD, RRID:SCR_001888)

      SciCrunch record: RRID:SCR_001888

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_001888 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC5434185/