2 Matching Annotations
  1. Feb 2021
  2. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    1
    1. dkanavy 24 Feb 2021
      Identification of a germline pathogenic TP53 (MIM: *191170) variant in a patient with cancer has drastic medical impacts.

      Gene: TP53

      Disease: Li-Fraumeni Syndrome

      MONDO: 0018875

      Gene:TP53 HGNC:11998 MONDO:0018875 CGType:GeneticCondition
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    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059
  3. Sep 2020
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482955/
    1
    1. yugen 16 Sep 2020
      TP53
      ClinGen gene:TP53 pmid:30466751
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    ncbi.nlm.nih.gov/pmc/articles/PMC6482955/