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Article

An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data.

Scientific reports - 1 Nov 2023

Sung Wonjae, Kim Jin-Ah, Kim Yong Sung, Park Jinseok, Oh Ki-Wook, Sung Jung-Joon, Ki Chang-Seok, Kim Young-Eun, Kim Seung Hyun

Abstract excerpt

The TARDBP gene variant is a known major cause of amyotrophic lateral sclerosis (ALS), with limited reports of Korean patients with ALS harboring the variants in TARDBP. This large cohort study introduces four ALS patients who share the p.M337V variant of the TARDBP, allowing for an investigation of clinical characteristics and prognosis by analyzing previously reported cases with the same variant. From November...

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Identifiers

PMID: 37914747
DOI: 10.1038/s41598-023-45593-3
PMCID: PMC10620191

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