Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.K310_G311Splc
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COL6A1

NM_001848.3:p.K310_G311Splc

Associated Papers

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.

Benati D et al.

Biomolecules, 2024

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.

Aguti S et al.

Molecular Therapy. Nucleic Acids, 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."