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1 Matching Annotations
  1. Mar 2021
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional characterization of 84 PALB2 variants of uncertain significance
    1
    1. shannon_mcnulty 18 Mar 2021
      in Public
      p.A1025R is known to disrupt the interaction between the C-terminus of PALB2 and BRCA2

      HGVS: NM_024675.3:c.3073_3074delinsCG p.(Ala1025Arg)

      CGType:Variant Variant:92 CA923726356 CAID:CA923726356
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    Tags

    • CA923726356
    • Variant:92
    • CGType:Variant
    • CAID:CA923726356

    Annotators

    • shannon_mcnulty

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7056643/
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Hypothes.is
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