Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V177A
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PAH

NM_000277.3:p.V177A

Associated Papers

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.

Zeng B et al.

Frontiers in Genetics, 2023

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.

Jennings IG et al.

European Journal of Human Genetics : Ejhg, 2000

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Guldberg P et al.

American Journal of Human Genetics, 1998

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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."