Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.G1035V
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COL3A1

NM_000090.4:p.G1035V

Associated Papers

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.

Bowen JM et al.

European Journal of Human Genetics : Ejhg, 2023

36977837 (PubMed )
Supplement: 41431_2023_1343_MOESM1_ESM.pdf

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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