Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.W385L
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TARDBP

NM_007375.4:p.W385L

Associated Papers

The flail-arm syndrome: the influence of phenotypic features.

Gromicho M et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.

Li J et al.

Journal of Neurology, 2022

Sequence Determinants of TDP-43 Ribonucleoprotein Condensate Formation and Axonal Transport in Neurons.

Vishal SS et al.

Frontiers in Cell and Developmental Biology, 2022

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.

Gromicho M et al.

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."