Varaico: Literature-Extracted Genetic Variants

Gene:PRTN3
Variant:p.Q123E
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PRTN3

NM_002777.4:p.Q123E

Associated Papers

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.

Fager Ferrari M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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."