Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.P1622L
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SETX

NM_015046.7:p.P1622L

Associated Papers

Sen1 has unique structural features grafted on the architecture of the Upf1-like helicase family.

Leonaitė B et al.

The Embo Journal, 2017

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J et al.

Annals of Neurology, 2015

Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia.

Chen X et al.

Genetics, 2014

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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."