Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.S105Splc
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PTS

NM_000317.3:p.S105Splc

Associated Papers

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.

Tebieva IS et al.

International Journal of Molecular Sciences, 2024

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › PTS_Short_Var_Pathogenetic

BH4-deficient hyperphenylalaninemia in Russia.

Gundorova P et al.

Plos One, 2021

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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."