Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.W120*
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PAH

NM_000277.3:p.W120*

Associated Papers

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.

Cannet C et al.

Molecules (basel, Switzerland), 2023

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

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."