Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E26*
Back to variants list

PAH

NM_000277.3:p.E26*

Associated Papers

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

Thöny B et al.

Human Genetics, 1998

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."