Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.S913_F914del1
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COL6A2

NM_001849.4:p.S913_F914del1

Associated Papers

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Zanotti S et al.

International Journal of Molecular Sciences, 2023

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