Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E178V
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PAH

NM_000277.3:p.E178V

Associated Papers

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.

Jennings IG et al.

European Journal of Human Genetics : Ejhg, 2000

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

Waters PJ et al.

Human Mutation, 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."