Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.H998H
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COL6A2

NM_001849.4:p.H998H

Associated Papers

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Valencia CA et al.

Plos One, 2013

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

Valencia CA et al.

The Journal of Molecular Diagnostics : Jmd, 0

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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."