Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G1059V
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COL3A1

NM_000090.4:p.G1059V

Associated Papers

Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation.

Sakai K et al.

Internal Medicine (tokyo, Japan), 2019

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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