Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q383*
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PAH

NM_000277.3:p.Q383*

Associated Papers

Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice.

Lundkvist P et al.

Jimd Reports, 2026

Mutational landscape of phenylketonuria in Iran.

Ajami N et al.

Journal of Cellular and Molecular Medicine, 2023

37525467 (PubMed )
Supplement: JCMM-27-2457-s005.xlsx › Sheet1

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

Alibakhshi R et al.

Metabolic Brain Disease, 2021

Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.

Hamzehloei T et al.

Gene, 2012

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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."