Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K137*
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TARDBP

NM_007375.4:p.K137*

Associated Papers

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.

Xing Y et al.

Orphanet Journal of Rare Diseases, 2025

40188109 (PubMed )
Supplement: 13023_2025_3696_MOESM2_ESM.xlsx › Sheet1

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.

Martinelli I et al.

Journal of Neurology, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."