Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.M1506T
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SETX

NM_015046.7:p.M1506T

Associated Papers

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

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

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

Scarlino S et al.

International Journal of Molecular Sciences, 2020

32397312 (PubMed )
Supplement: ijms-21-03346-s001.pdf
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