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Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Oct 2021

He Ji, Ma Xinran, Yu Weiyi, Tang Lu, Fu Jiayu, Liu Xiaoxuan, Ye Shan, Wan Mengxia, Fan Dongsheng

Abstract excerpt

DNAJC7 has recently been recognized as a novel amyotrophic lateral sclerosis (ALS) risk gene. To date, few studies have screened DNAJC7 mutations in Chinese population. Further studies are needed to clarify the clinical and genetic features of DNAJC7-related ALS. Sporadic ALS (sALS) patients and controls were enrolled in this study. Variants were detected by whole-exome sequencing and validated via Sanger...

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PMID: 34233860
DOI: 10.1016/j.neurobiolaging.2021.04.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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