Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.N92K
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PTS

NM_000317.3:p.N92K

Associated Papers

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.

Li L et al.

Frontiers in Genetics, 2022

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."