Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.L342L
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COL6A1

NM_001848.3:p.L342L

Associated Papers

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

Tsang MHY et al.

Molecular Genetics & Genomic Medicine, 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."