Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G257C
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PAH

NM_000277.3:p.G257C

Associated Papers

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.

Giannattasio S et al.

Human Heredity, 2001

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

Rottoli A et al.

Journal of Medical Screening, 1999

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Guzzetta V et al.

Journal of Inherited Metabolic Disease, 1997

Science, medicine and phenylketonuria.

Scriver CR

Acta Paediatrica (oslo, Norway : 1992). Supplement, 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."