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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL5A3

Variant:p.P1050S

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COL5A3

NM_015719.4:p.P1050S

hg38:chr19:9977451 G>A

Associated Papers

A Rare Case of Penoscrotal Webbing and Extensive Hernias: An Anatomical Report With Genetic Insights.

Olson CM et al.

Cureus, 2023

38021525 (PubMed )

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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."