Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y377delFs
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PAH

NM_000277.3:p.Y377delFs

Associated Papers

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

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

The PAH gene, phenylketonuria, and a paradigm shift.

Scriver CR

Human Mutation, 2007

Phenylketonuria mutations in Europe.

Zschocke J

Human Mutation, 2003

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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."