Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.R288_P289insFs
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COL6A1

NM_001848.3:p.R288_P289insFs

Associated Papers

Differential diagnosis of vacuolar myopathies in the NGS era.

Mair D et al.

Brain Pathology (zurich, Switzerland), 2020

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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."