Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.R9H
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PTS

NM_000317.3:p.R9H

Associated Papers

BH4-deficient hyperphenylalaninemia in Russia.

Gundorova P et al.

Plos One, 2021

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

Kuznetcova I et al.

Metabolic Brain Disease, 2019

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Chiu YH et al.

Journal of Human Genetics, 2012

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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."