Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G257S
Back to variants list

PAH

NM_000277.3:p.G257S

Associated Papers

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

Rottoli A et al.

Journal of Medical Screening, 1999

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."