Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.P1270L
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SETX

NM_015046.7:p.P1270L

Associated Papers

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

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

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

25299611 (PubMed )
Supplement: pgen.1004704.s005.xlsx › Sheet1

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H et al.

Biomed Research International, 2014

25025039 (PubMed )
Supplement: 210401.f1.pdf
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