Varaico: Literature-Extracted Genetic Variants

Gene:GC
Variant:p.E280K
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GC

NM_000583.4:p.E280K

Associated Papers

[Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region].

Smagulova FO et al.

Bioorganicheskaia Khimiia, 2000

[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].

Smagulova FO et al.

Genetika, 2000

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

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.

Meijer H et al.

Human Genetics, 1993

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?

Dworniczak B et al.

Human Mutation, 1992

[Molecular genetics of phenylketonuria in Novosibirsk Region].

Smagulova FO et al.

Zhurnal Evoliutsionnoi Biokhimii I Fiziologii, 0

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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."