Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.P294delFs
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COL6A1

NM_001848.3:p.P294delFs

Associated Papers

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

López-Márquez A et al.

International Journal of Molecular Sciences, 2022

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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."