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

Rare diseases are estimated to affect 3.5%–5.9% of the population worldwide and are difficult to diagnose. Genome analysis is useful for diagnosis. However, since some variants, especially missense variants, are also difficult to interpret, tools to accurately predict the effect of missense variants...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694752/
http://dx.doi.org/10.1016/j.ymgmr.2023.101016

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