Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L367V
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PAH

NM_000277.3:p.L367V

Associated Papers

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Tao J et al.

Pediatric Research, 2015

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

Li N et al.

Scientific Reports, 2015

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

Rottoli A et al.

Journal of Medical Screening, 1999

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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."