Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G352fs
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PAH

NM_000277.3:p.G352fs

Associated Papers

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

Bueno MA et al.

Journal of Human Genetics, 2013

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.

Karam PE et al.

Gene, 2013

Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

Dahri S et al.

Clinical Biochemistry, 2010

Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.

Guldberg P et al.

Human Mutation, 1996

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

Bénit P et al.

Human Molecular Genetics, 1994

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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."