Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar
ACMG/AMP指南在肺动脉高压BMPR2变异体临床分类中的应用解决了ClinVar数据库中致病性不明的变异体问题。
期刊:Human Mutation
影响因子:3.7
doi:10.1155/humu/2475635
Eichstaedt, Christina A; Maldonado-Velez, Gabriel; Machado, Rajiv D; Gräf, Stefan; Dooijes, Dennis; Balachandar, Srimmitha; Coulet, Florence; Day, Kristina; Eyries, Melanie; Macaya, Daniela; Shaukat, Memoona; Southgate, Laura; Tenorio-Castano, Jair; Chung, Wendy K; Welch, Carrie L; Aldred, Micheala A
