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Clinical, Splicing, and Functional Analysis to Classify BRCA2 Exon 3 Variants: Application of a Points-Based ACMG/AMP Approach.

Mads Thomassen,Romy L. S. Mesman,Thomas V. O. Hansen,Mireia Menendez,Maria Rossing,Ada Esteban-Sanchez,Emma Tudini,Therese Torngren,Michael T. Parsons,Inge S. Pedersen,Soo H. Teo,Torben A. Kruse,Pal Moller,Ake Borg,Uffe B. Jensen,Lise L. Christensen,Christian F. Singer,Daniela Muhr,Marta Santamarina,Rita Brandao,Brage S. Andresen,Bing-Jian Feng,Daffodil Canson,Marcy E. Richardson,Rachid Karam,Tina Pesaran,Holly LaDuca,Blair R. Conner,Nelly Abualkheir,Lily Hoang,Fabienne M. G. R. Calleja,Lesley Andrews,Paul A. James,Dave Bunyan, Amanda Hamblett,Paolo Radice,David E. Goldgar,Logan C. Walker,Christoph Engel,Kathleen B. M. Claes,Eva Machackova,Diana Baralle,Alessandra Viel,Barbara Wappenschmidt,Conxi Lazaro,Ana Vega,Maaike P. G. Vreeswijk,Miguel de la Hoya,Amanda B. Spurdle

Human mutation（2022）

引用 2|浏览29
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关键词
ACMG,AMP classification,BRCA2,dPCR,functional analysis,quantitation,splicing
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