Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.F458L
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SETX

NM_015046.7:p.F458L

Associated Papers

The genetics of motor neuron disease in New Zealand.

Mrkela M et al.

Journal of the Neurological Sciences, 2025

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Ruf WP et al.

Brain Communications, 2023

37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf

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

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

Müller K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

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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."