Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P407fs
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PAH

NM_000277.3:p.P407fs

Associated Papers

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

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Kayaalp E et al.

American Journal of Human Genetics, 1997

Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.

Bénit P et al.

Human Molecular Genetics, 1994

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.

Bénit P et al.

Human Mutation, 1994

[What can we expect from identification of mutations of the phenylalanine hydroxylase gene?].

Rey J et al.

Archives Francaises De Pediatrie, 1992

[Catalog of mutations of the phenylalanine hydroxylase gene].

Rey F et al.

Archives Francaises De Pediatrie, 1992

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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."