Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R270G
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PAH

NM_000277.3:p.R270G

Associated Papers

[In vitro expression study of novel mutations in phenylalanine hydroxylase gene].

Zhang XS et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Sarkissian CN et al.

Jimd Reports, 2012

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.

Zhu T et al.

Pediatric Research, 2010

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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."