Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P281Splc
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PAH

NM_000277.3:p.P281Splc

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_____

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.

Karam PE et al.

Gene, 2013

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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."