Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K42E
Back to variants list

PAH

NM_000277.3:p.K42E

Associated Papers

Bending of DNA duplexes with mutation motifs.

Růžička M et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

Aldámiz-Echevarría L et al.

Journal of Human Genetics, 2016

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

Couce ML et al.

Gene, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."