Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S295*
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PAH

NM_000277.3:p.S295*

Associated Papers

Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.

Langenbeck U et al.

Journal of Inherited Metabolic Disease, 2009

Phenylketonuria mutations in Germany.

Zschocke J et al.

Human Genetics, 1999

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Guldberg P et al.

American Journal of Human Genetics, 1998

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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."