Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L258P
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PAH

NM_000277.3:p.L258P

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

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

Aldámiz-Echevarría L et al.

Journal of Human Genetics, 2016

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

Bueno MA et al.

Journal of Human Genetics, 2013

Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.

Dahri S et al.

Clinical Biochemistry, 2010

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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."