Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.K674_G675Splc
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COL3A1

NM_000090.4:p.K674_G675Splc

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.

Yamaguchi T et al.

American Journal of Medical Genetics. Part A, 2023

36189931 (PubMed )
Supplement: AJMG-191-37-s002.xlsx › S3_gnomAD_LoF
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