Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.G585fs
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COL6A2

NM_001849.4:p.G585fs

Associated Papers

Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.

Morel V et al.

Frontiers in Genetics, 2023

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Deconinck N et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2015

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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."