Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S439Splc
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PAH

NM_000277.3:p.S439Splc

Associated Papers

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Chinsky JM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Dursun A et al.

Jimd Reports, 2011

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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."