2 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor
    2
    1. shannon_mcnulty 18 Mar 2021
      SUPPLEMENTARY DATA

      AssayResult: 95.47

      AssayResultAssertion: Not reported

      PValue: > 0.9999

      Comment: Exact values reported in Table S3.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:20 CAID:CA294183 ClinVarID:126708
    2. shannon_mcnulty 18 Mar 2021
      To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).

      HGVS: NM_024675.3:c.3054G>C p.(Glu1018Asp)

      CGType:Variant CG:BulkAnnotation Variant:20 ClinVarID:126708 CAID:CA294183
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    ncbi.nlm.nih.gov/pmc/articles/PMC6847799/