Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D84G
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PAH

NM_000277.3:p.D84G

Associated Papers

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Gao J et al.

Human Genomics, 2022

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

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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."