Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G312C
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PAH

NM_000277.3:p.G312C

Associated Papers

Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Vieira Neto E et al.

Molecular Genetics & Genomic Medicine, 2019

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Vieira Neto E et al.

Molecular Genetics & Genomic Medicine, 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."