Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.R25Q
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QDPR

NM_000320.3:p.R25Q

Associated Papers

A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.

Ghanei M et al.

Human Heredity, 2023

Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.

Scherer-Oppliger T et al.

The Journal of Biological Chemistry, 1999

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Thöny B et al.

Human Mutation, 1997

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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."