Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S196Y
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PAH

NM_000277.3:p.S196Y

Associated Papers

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

Trunzo R et al.

Gene, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Trunzo R et al.

Clinical Biochemistry, 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."