Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.R155C
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COL5A2

NM_000393.5:p.R155C

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_3

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

Characterization of rare germline variants in familial multiple myeloma.

Catalano C et al.

Blood Cancer Journal, 2021

33583942 (PubMed )
Supplement: 41408_2021_422_MOESM1_ESM.pdf

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Grelet M et al.

Orphanet Journal of Rare Diseases, 2019

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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."