Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL-Reference-Cited by-同舟云学术

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

Published:2023-12 Issue: Volume:37 Page:101016
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

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

Funder

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference43 articles.

1. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database;Nguengang Wakap;Eur. J. Hum. Genet.,2020

2. Online Mendelian inheritance in man (OMIM(R)): victor McKusick’s magnum opus;Hamosh;Am. J. Med. Genet. A,2021

3. Online Inheritance in Man: OMIM, 1966-2022,2023

4. Nelson Textbook of Pediatrics;Kliegman,2020

5. Loss of protein structure stability as a major causative factor in monogenic disease;Yue;J. Mol. Biol.,2005

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1. Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors;Human Genomics;2024-08-28

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