Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E78K
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PAH

NM_000277.3:p.E78K

Associated Papers

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Rajabi F et al.

Molecular Genetics and Metabolism, 2019

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Krauthammer M et al.

Nature Genetics, 2012

22842228 (PubMed )
Supplement: NIHMS390374-supplement-1.pdf

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Sarkissian CN et al.

Jimd Reports, 2012

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

Nowacki PM et al.

Nucleic Acids Research, 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."