Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.R210Q
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COL5A1

NM_000093.5:p.R210Q

Associated Papers

Integrative genomic analyses of European intrahepatic cholangiocarcinoma: Novel ROS1 fusion gene and PBX1 as prognostic marker.

Plum PS et al.

Clinical and Translational Medicine, 2024

38877653 (PubMed )
Supplement: CTM2-14-e1723-s002.xlsx › STab_5_WES_validation_deep_NGS

Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Bortolomeazzi M et al.

Gastroenterology, 2021

34197832 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_3

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

McElroy A et al.

Journal of Veterinary Internal Medicine, 0

37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1
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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."