Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.R872W
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COL6A1

NM_001848.3:p.R872W

Associated Papers

The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Alotibi RS et al.

Frontiers in Pediatrics, 2023

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."