3 Matching Annotations
  1. Feb 2024
  2. www.medrxiv.org www.medrxiv.org
    Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder
    1
    1. scibot 04 Feb 2024
      RRID:EXRC_3001

      DOI: 10.1101/2023.10.11.23295963

      Resource: (EXRC Cat# 3001,RRID:EXRC_3001)

      Curator: @scibot

      SciCrunch record: RRID:EXRC_3001

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      RRID:EXRC_3001
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    medrxiv.org/content/10.1101/2023.10.11.23295963v1
  3. Jun 2022
  4. www.sciencedirect.com www.sciencedirect.com
    Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
    1
    1. scibot 08 Jun 2022
      RRID:EXRC_3001

      DOI: 10.1016/j.ajhg.2022.05.009

      Resource: (EXRC Cat# 3001,RRID:EXRC_3001)

      Curator: @scibot

      SciCrunch record: RRID:EXRC_3001

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      RRID:EXRC_3001
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    sciencedirect.com/science/article/pii/S0002929722002154
  5. Feb 2021
  6. genomemedicine.biomedcentral.com genomemedicine.biomedcentral.com
    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
    1
    1. scibot 26 Feb 2021
      RRID:EXRC_3001

      DOI: 10.1186/s13073-021-00850-w

      Resource: EXRC_3001

      Curator: @Naa003

      SciCrunch record: RRID:EXRC_3001

      Curator comments: Xtr.Tg(tubb2b:GFP)Amaya Xenopus tropicalis EXRC Cat# 3001

      What is this?
      RRID:EXRC_3001 RRIDCUR:Unresolved
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    genomemedicine.biomedcentral.com/article/10.1186/s13073-021-00850-w