Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.V3044I
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COL6A3

NM_004369.4:p.V3044I

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Early-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.

Yan J et al.

Movement Disorders Clinical Practice, 2024

[Correlation of the autophagosome gene ATG16L1 polymorphism and inflammatory bowel disease].

Zhi J et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2008

[Relationship of collagen type I alpha 1 and alpha 2 gene polymorphisms with bone mineral density].

Li DF et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2006

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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."