Varaico: Literature-Extracted Genetic Variants

Gene:COL6A6
Variant:p.G1659R
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COL6A6

NM_001102608.3:p.G1659R

Associated Papers

Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.

Wang Q et al.

Genes & Genomics, 2025

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
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