Varaico: Literature-Extracted Genetic Variants

Gene:HPSE
Variant:p.K108E
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HPSE

NM_001098540.3:p.K108E

Associated Papers

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

Waters PJ et al.

Human Mutation, 1998

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.

Svensson E et al.

Human Mutation, 1992

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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."