Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q355_Y356Splc
Back to variants list

PAH

NM_000277.3:p.Q355_Y356Splc

Associated Papers

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.

Rivera I et al.

Molecular Genetics and Metabolism, 2011

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."