Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.P2070_G2071Splc
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COL6A3

NM_004369.4:p.P2070_G2071Splc

Associated Papers

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.

Picillo E et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2022

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.

Bolduc V et al.

Molecular Therapy. Nucleic Acids, 2014

24518369 (PubMed )
Supplement: mtna201374x1.pdf

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L et al.

Annals of Neurology, 2010

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