Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.N291H
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TARDBP

NM_007375.4:p.N291H

Associated Papers

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

Effect of familial clustering in the genetic screening of 235 French ALS families.

Corcia P et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis.

Chami AA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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."