Varaico: Literature-Extracted Genetic Variants

Gene:QPCT
Variant:p.L48S
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QPCT

NM_012413.4:p.L48S

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

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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."