Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.P289delFs
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COL6A1

NM_001848.3:p.P289delFs

Associated Papers

Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.

Bolduc V et al.

Molecular Therapy. Nucleic Acids, 2024

Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.

Bolduc V et al.

Biorxiv : the Preprint Server for Biology, 2024

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