Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.H1962R
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SETX

NM_015046.7:p.H1962R

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

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.

Chen S et al.

Frontiers in Molecular Neuroscience, 2022

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

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

Leonaitė B et al.

The Embo Journal, 2017

28408439 (PubMed )
Supplement: EMBJ-36-1590-s001.pdf

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Arning L et al.

Neurogenetics, 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."