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Gene-specific ACMG/AMP Classification Criteria for Germline APC Variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Isabel Spier,Xiaoyu Yin,Marcy Richardson,Marta Pineda,Andreas Laner,Deborah Ritter,Julie Boyle,Pilar Mur,Thomas V. O. Hansen,Xuemei Shi,Khalid Mahmood,John-Paul Plazzer,Elisabet Ognedal,Margareta Nordling,Susan M. Farrington,Gou Yamamoto,Stephanie Baert-Desurmont,Alexandra Martins,Ester Borras,Carli Tops, Erica Webb,Victoria Beshay,Maurizio Genuardi,Tina Pesaran,Gabriel Capella,Sean Tavtigian,Andrew Latchford,Ian M. Frayling,Sharon E. Plon,Marc Greenblatt,Finlay A. Macrae,Stefan Aretz

GENETICS IN MEDICINE（2024）

Cited 7|Views42
Key words
ACMG/AMP variantclassification,guidelines,Adenomatous polyposis coli (APC),ClinGen,Familial adenomatous,polyposis (FAP),InSiGHT
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