Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.V728M
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COL6A2

NM_001849.4:p.V728M

Associated Papers

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

Marinella G et al.

International Journal of Molecular Sciences, 2022

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.

Eker D et al.

Global Medical Genetics, 2022

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."