Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A342P
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PAH

NM_000277.3:p.A342P

Associated Papers

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Pecimonova M et al.

Genes, 2019

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Nowacki PM et al.

Nucleic Acids Research, 1998

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

Kozák L et al.

Journal of Medical Genetics, 1997

[Mutation analysis of the phenylalanine hydroxylase gene of phenylketonuria patients of Kemerovskaya Oblast' and Saha Republic].

Baturina OA et al.

Tsitologiia I Genetika, 0

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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."