Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q172*
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PAH

NM_000277.3:p.Q172*

Associated Papers

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

Zhu T et al.

Gene, 2013

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

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Nowacki PM et al.

Nucleic Acids Research, 1998

Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.

Guldberg P et al.

Human Mutation, 1996

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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."