Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G46R
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PAH

NM_000277.3:p.G46R

Associated Papers

Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.

Zhang Z et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2018

A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.

Maruo Y et al.

World Journal of Pediatrics : Wjp, 2015

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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."