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Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review

10 Aug 2026

Abstract excerpt

We analyzed the clinical features of a patient with amyotrophic lateral sclerosis (ALS) carrying a novel variant in the sequestosome 1 (SQSTM1) gene and explored the genotype-phenotype association of SQSTM1 gene variants in combination with previous literature. Clinical data and genetic testing results of an ALS patient treated at our hospital were collected. Whole-exome sequencing was used to screen for...

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PMID: 42573824
DOI: 10.1007/s10048-026-00924-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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