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Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (cancer Variant Interpretation Group-UK)

Alice Garrett,Sophie Allen,Miranda Durkie,George J. Burghel,Rachel Robinson,Alison Callaway,Joanne Field, Bethan Frugtniet,Sheila Palmer-Smith, Jonathan Grant,Judith Pagan,Trudi Mcdevitt,Charlie F. Rowlands,Terri Mcveigh,Helen Hanson,Clare Turnbull

GENETICS IN MEDICINE（2025）

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关键词
ACMG/AMP,Clinical genetics,Framework,Reduced penetrance,Variant interpretation
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