Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y154N
Back to variants list

PAH

NM_000277.3:p.Y154N

Associated Papers

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

Odagiri S et al.

International Journal of Neonatal Screening, 2021

33803550 (PubMed )
Supplement: IJNS-07-00017-s001.zip › IJNS-1138821-supplementary.xlsx › ___370_____

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Nowacki PM et al.

Nucleic Acids Research, 1998

Science, medicine and phenylketonuria.

Scriver CR

Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994

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."