Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.R993R
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COL6A2

NM_001849.4:p.R993R

Associated Papers

Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Fridman H et al.

Molecular Genetics and Genomics : Mgg, 2021

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ankala A et al.

Annals of Neurology, 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."