Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.S2561L
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SETX

NM_015046.7:p.S2561L

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

[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].

Kitao R et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

Tripolszki K et al.

Brain and Behavior, 2017

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

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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."