Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P89S
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PAH

NM_000277.3:p.P89S

Associated Papers

Mutational spectrum of phenylketonuria in Jiangsu province.

Chen YF et al.

European Journal of Pediatrics, 2015

Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients.

Zekanowski C et al.

Human Heredity, 2001

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.

Zekanowski C et al.

Journal of Medical Screening, 2001

Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.

Zekanowski C et al.

Genetic Testing, 1999

Molecular basis of mild hyperphenylalaninaemia in Poland.

Zekanowski C et al.

Journal of Medical Genetics, 1997

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3.

Zekanowski C et al.

Human Mutation, 1997

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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."