Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q304P
Back to variants list

PAH

NM_000277.3:p.Q304P

Associated Papers

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

Daniele A et al.

The Febs Journal, 2009

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."