Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L348P
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PAH

NM_000277.3:p.L348P

Associated Papers

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Zhou J et al.

Molecular Biology Reports, 2022

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Zhu T et al.

Gene, 2013

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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."