Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.G1006R
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SETX

NM_015046.7:p.G1006R

Associated Papers

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.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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