Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.R42H
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TARDBP

NM_007375.4:p.R42H

Associated Papers

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

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

Somatic TARDBP variants as a cause of semantic dementia.

van Rooij J et al.

Brain : a Journal of Neurology, 2020

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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."