Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL

Autor: Aoki, Eriko, Manabe, Noriyoshi, Ohno, Shiho, Aoki, Taiga, Furukawa, Jun-Ichi, Togayachi, Akira, Aoki-Kinoshita, Kiyoko, Inokuchi, Jin-Ichi, Kurosawa, Kenji, Kaname, Tadashi, Yamaguchi, Yoshiki, Nishihara, Shoko
Zdroj: In Molecular Genetics and Metabolism Reports December 2023 37
Databáze: ScienceDirect