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Assessing predictions on fitness effects of missense variants in HMBS in CAGI6

par 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
Référence Human genetics
Publication Publié, 2024-08-01

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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
Langue:	Anglais
Identificateurs:	urn:issn:0340-6717
	info:doi/10.1007/s00439-024-02680-3
	info:pii/2680