Varaico: Literature-Extracted Genetic Variants

Gene:COL6A5
Variant:p.L2591*
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COL6A5

NM_001278298.2:p.L2591*

Associated Papers

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin's family by multi-omics analysis.

Hao XD et al.

Orphanet Journal of Rare Diseases, 2020

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s005.xlsx › 24_Caucasian_controls
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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."