Predicting pathogenic protein variants

Marsh, JA; Teichmann, SA

Marsh, JA (通讯作者),Univ Edinburgh, Inst Genet & Canc, MRC Human Genet Unit, Edinburgh, Scotland.

SCIENCE, 2023; 381 (6664): 1284

Abstract

Many of the genetic mutations that cause disease in humans occur in protein-coding regions. Although the capacity to sequence DNA and identify these v......

Full Text Link