3 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
    3
    1. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 15.23

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardErrorMean: 6.42

      Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as Q899X.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:2 Variant:37 CAID:CA164468 ClinVarID:1246 ValidationControl:Pathogenic
    2. shannon_mcnulty 18 Mar 2021
      Source Data

      AssayResult: 7.08

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 0.54

      StandardErrorMean: 0.38

      Comment: Exact values reported in “Source Data” file.

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:37 CAID:CA164468 ClinVarID:1246 ValidationControl:Pathogenic
    3. shannon_mcnulty 18 Mar 2021
      We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.2962C>T p.(Q988X)

      CGType:Variant CG:BulkAnnotation Variant:37 ClinVarID:1246 CAID:CA164468
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    ncbi.nlm.nih.gov/pmc/articles/PMC6876638/