Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L364del1
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PAH

NM_000277.3:p.L364del1

Associated Papers

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

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.

Wilhelm K et al.

Frontiers in Genetics, 2022

35692825 (PubMed )
Supplement: DataSheet1.xlsx › Supplemental_Table_5_-_Scoring_

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 phenylketonuria in Iranian population.

Zare-Karizi Sh et al.

Molecular Genetics and Metabolism, 2011

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

Aulehla-Scholz C et al.

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."