Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.V1031M
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COL6A3

NM_004369.4:p.V1031M

Associated Papers

Genetic predisposition to immune dysregulation and extracellular matrix remodeling in cardiac arrhythmia reveals potential mediation by SPP1+ macrophages.

Jin JY et al.

Frontiers in Cell and Developmental Biology, 2025

40900730 (PubMed )
Supplement: Table1.xlsx › Table_S2

Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease.

Zhang Q et al.

Heliyon, 2024

38163100 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

[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."