Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

著者: Çiğdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary, Girish N. Nadkarni, Tielman Van Vleck, Anne Puel, Stéphanie Boisson‐Dupuis, Satoshi Okada, Peter D. Stenson, D.N. Cooper, Avner Schlessinger, Yuval Itan - The American Journal of Human Genetics 2021 被引用: 56