Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.H49Q
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PTS

NM_000317.3:p.H49Q

Associated Papers

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

Chiu YH et al.

Journal of Human Genetics, 2012

Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.

Vatanavicharn N et al.

Journal of Inherited Metabolic Disease, 2009

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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."