Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.D352del1
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COL6A1

NM_001848.3:p.D352del1

Associated Papers

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Cruz S et al.

Journal of Neuromuscular Diseases, 2016

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

Lampe AK et al.

Human Mutation, 2008

A refined diagnostic algorithm for Bethlem myopathy.

Hicks D et al.

Neurology, 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."