Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y77H
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PAH

NM_000277.3:p.Y77H

Associated Papers

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.

Vela-Amieva M et al.

Children (basel, Switzerland), 2023

The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

Ohlsson A et al.

Jimd Reports, 2017

[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].

Oscarson M et al.

Lakartidningen, 2016

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