Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.Y773*
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COL6A2

NM_001849.4:p.Y773*

Associated Papers

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

Lampe AK et al.

Human Mutation, 2008

Collagen VI related muscle disorders.

Lampe AK et al.

Journal of Medical Genetics, 2005

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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."