Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.M627T
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SETX

NM_015046.7:p.M627T

Associated Papers

Two Families With Amyotrophic Lateral Sclerosis Founder Mutation TARDBP p.G298S in Hong Kong.

Yip MK et al.

Cureus, 2025

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.

Zhang H et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Pang SY et al.

Neurobiology of Aging, 2017

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

Nishiyama A et al.

Neurobiology of Aging, 2017

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Kim HJ et al.

Neurobiology of Aging, 2016

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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."