Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.A22G
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PTS

NM_000317.3:p.A22G

Associated Papers

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.

Sadat Fatemi SH et al.

Molecular Genetics & Genomic Medicine, 2022

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.

Ray S et al.

Metabolic Brain Disease, 2022

Insights into structure-activity relationships in the C-terminal region of divercin V41, a class IIa bacteriocin with high-level antilisterial activity.

Rihakova J et al.

Applied and Environmental Microbiology, 2009

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

Thöny B et al.

Human Mutation, 2006

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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."