Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.T1368M
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COL6A3

NM_004369.4:p.T1368M

Associated Papers

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Vorontsova EO et al.

International Journal of Molecular Sciences, 2025

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 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."