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Article

Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.

Journal of medical genetics - 24 Sept 2024

Wang Shichan, Jiang Qirui, Zheng Xiaoting, Wei Qianqian, Lin Junyu, Yang Tianmi, Xiao Yi, Li Chunyu, Shang Huifang

Abstract excerpt

BACKGROUND: Several variants of sequestosome 1 (SQSTM1) were screened in patients with amyotrophic lateral sclerosis (ALS), while the pathogenicity and genotype-phenotype correlation remains unclear. METHODS: We screened variants of SQSTM1 gene in 2011 Chinese patients with ALS and performed a burden analysis focusing on the rare variants. Furthermore, we conducted a comprehensive analysis of patients with...

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Source

Identifiers

PMID: 39122262
DOI: 10.1136/jmg-2023-109569

Genes

SQSTM1

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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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