Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.P659del1
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COL5A2

NM_000393.5:p.P659del1

Associated Papers

Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.

Ma N et al.

Molecular Genetics & Genomic Medicine, 2021

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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."