Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.P1566L
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COL5A1

NM_000093.5:p.P1566L

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

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

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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."