3 Matching Annotations
  1. Feb 2021
    1. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.736A>G p.(Met246Val)

    2. Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

    3. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details