Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.D448G
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SETX

NM_015046.7:p.D448G

Associated Papers

High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.

Munabi NCO et al.

American Journal of Medical Genetics. Part A, 2022

Association of protein function-altering variants with cardiometabolic traits: the strong heart study.

Shan Y et al.

Scientific Reports, 2022

35665752 (PubMed )
Supplement: 41598_2022_12866_MOESM2_ESM.xlsx › TableS3

Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.

Zhang H et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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."