Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.A2443T
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COL6A3

NM_004369.4:p.A2443T

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Vadgama N et al.

Human Genomics, 2022

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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."