Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S350T
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PAH

NM_000277.3:p.S350T

Associated Papers

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

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

Nowacki PM et al.

Nucleic Acids Research, 1998

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

Carter KC et al.

European Journal of Human Genetics : Ejhg, 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."