Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L194R
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PAH

NM_000277.3:p.L194R

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

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

Alibakhshi R et al.

Metabolic Brain Disease, 2021

TP53 and lacZ mutagenesis induced by 3-nitrobenzanthrone in Xpa-deficient human TP53 knock-in mouse embryo fibroblasts.

Kucab JE et al.

Dna Repair, 2016

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Ben-Rebeh I et al.

Genetic Testing and Molecular Biomarkers, 2012

Mutation spectrum of phenylketonuria in Iranian population.

Zare-Karizi Sh et al.

Molecular Genetics and Metabolism, 2011

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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."