Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.A1373T
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COL6A3

NM_004369.4:p.A1373T

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

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NBL-S

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bagnall RD et al.

Bmc Medical Genetics, 2014

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."