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Article

Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.

Genes - 4 Nov 2023

Lombardi Michele, Corrado Lucia, Piola Beatrice, Comi Cristoforo, Cantello Roberto, D'Alfonso Sandra, Mazzini Letizia, De Marchi Fabiola

Abstract excerpt

Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are associated with 2-5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular mechanisms (e.g., transcription, pre-mRNA processing, and splicing). Many ALS-linked TARDBP mutations have been described in the literature, but few phenotypic...

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Identifiers

PMID: 38002982
DOI: 10.3390/genes14112039
PMCID: PMC10671725

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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