Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.R1149W
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COL6A3

NM_004369.4:p.R1149W

Associated Papers

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.

Kars ME et al.

American Journal of Human Genetics, 2025

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C et al.

American Journal of Human Genetics, 2012

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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."