Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G148R
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PAH

NM_000277.3:p.G148R

Associated Papers

Founder Variants of the Turkish.

Kablan A

Clinical Genetics, 2026

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.

Zeng B et al.

Frontiers in Genetics, 2023

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N et al.

Scientific Reports, 2015

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

Melenovská P et al.

Journal of Inherited Metabolic Disease, 2015

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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."