Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P147_G148Splc
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PAH

NM_000277.3:p.P147_G148Splc

Associated Papers

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Garbade SF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Hamilton V et al.

Jimd Reports, 2018

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

Bueno MA et al.

Journal of Human Genetics, 2013

Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.

Bonyadi M et al.

Genetic Testing and Molecular Biomarkers, 2010

Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.

Feillet F et al.

Early Human Development, 2008

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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."