Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.P2070del1
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COL6A3

NM_004369.4:p.P2070del1

Associated Papers

Current Classification of Canine Muscular Dystrophies and Identification of New Variants.

Shelton GD et al.

Genes, 2023

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK et al.

Human Mutation, 2008

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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."