Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K85*
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PAH

NM_000277.3:p.K85*

Associated Papers

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects.

Khemir S et al.

Journal of Child Neurology, 2016

Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco.

Lamzouri A et al.

Genetic Testing and Molecular Biomarkers, 2012

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."