Titre:
  • Assessing predictions on fitness effects of missense variants in HMBS in CAGI6
Auteur:Zhang, Jing; Kinch, Lisa; Katsonis, Panagiotis; Lichtarge, Olivier; Jagota, Milind; Song, Yun S.; Sun, Yuanfei; Shen, Yang; Kuru, Nurdan; Dereli, Onur; Adebali, Ogun; Alladin, Muttaqi Ahmad; Pal, Debnath; Capriotti, Emidio; Turina, Maria Paola; Savojardo, Castrense; Martelli, Pier Luigi; Babbi, Giulia; Casadio, Rita RC; Pucci, Fabrizio; Rooman, Marianne; Cia Beriain, Gabriel; Tsishyn, Matsvei; Strokach, Alexey; Hu, Zhiqiang; van Loggerenberg, Warren; Roth, Frederick P; Radivojac, Predrag; Brenner, Steven E.; Cong, Qian; Grishin, Nick
Informations sur la publication:Human genetics
Statut de publication:Publié, 2024-08-01
Sujet CREF:Génétique clinique
Biophysique
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0340-6717
info:doi/10.1007/s00439-024-02680-3
info:pii/2680
info:scp/85200890326
info:pmid/39110250