1 Matching Annotations
  1. May 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1
    1
    1. egerek 03 May 2022
      DICER1 syndrome is an autosomal-dominant, familial pleiotropic tumor-predisposition disorder1 caused by pathogenic germline variants in DICER1, an essential component of the microRNA processing pathway.

      GeneName: DICER1 PMID: 30715996 HGNCID: N/A Inherritence pattern: autosomal dominant Disease Entity: multiple gene variants mutation: germline Zygosity: N/A Variant: Not found Family Info: N/A

      multiplegenevariants Gene:DICER1 Germline PMID: 30715996 AutosomalDominant miRNA SomaticLoss-of-functionMutation IncompletePentrence MissenseMutation DicerAssociatedNeoplasms NeoplasmRisk MalignancyRisk DICER1Carriers pathogenic
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6553836/