Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.M2T
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COL5A2

NM_000393.5:p.M2T

Associated Papers

Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.

Chen MH et al.

Journal of the American Heart Association, 2024

38958128 (PubMed )
Supplement: JAH3-13-e033232-s001.pdf

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4B

Spontaneous coronary artery dissection: Role of prognostic markers and relationship with genetic analysis.

Antonutti M et al.

International Journal of Cardiology, 2021

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.

Madan V et al.

Leukemia, 2016

27063598 (PubMed )
Supplement: leu201669x3.xls › Sheet_1
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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."