Varaico: Literature-Extracted Genetic Variants

Gene:COL6A5
Variant:p.V669G
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COL6A5

NM_001278298.2:p.V669G

Associated Papers

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

Integrated Analysis of the Pancreas and Islets Reveals Unexpected Findings in Human Male With Type 1 Diabetes.

Haliyur R et al.

Journal of the Endocrine Society, 2021

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis.

Söderhäll C et al.

Plos Biology, 2007

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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."