Varaico: Literature-Extracted Genetic Variants

Gene:GLS
Variant:p.Y414C
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GLS

NM_014905.5:p.Y414C

Associated Papers

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 of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].

Růzicková S et al.

Casopis Lekaru Ceskych, 1997

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Kozák L et al.

Human Genetics, 1995

[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].

Kozák L et al.

Casopis Lekaru Ceskych, 1995

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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."