Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.L976S
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COL6A2

NM_001849.4:p.L976S

Associated Papers

Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Lee S et al.

Diabetology & Metabolic Syndrome, 2022

Causative variant profile of collagen VI-related dystrophy in Japan.

Inoue M et al.

Orphanet Journal of Rare Diseases, 2021

Identification of novel non-synonymous variants associated with type 2 diabetes-related metabolites in Korean population.

Park TJ et al.

Bioscience Reports, 2019

31652446 (PubMed )
Supplement: BSR-2019-0078_supp.pdf
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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."