Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.E821Splc
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COL6A2

NM_001849.4:p.E821Splc

Associated Papers

Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy.

Xu S et al.

Qjm : Monthly Journal of the Association of Physicians, 2024

Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.

Fan Y et al.

Clinical Genetics, 2018

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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."