Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.E81_E82Splc
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PTS

NM_000317.3:p.E81_E82Splc

Associated Papers

Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China.

Qiu X et al.

Frontiers in Genetics, 2023

[PTPS gene analysis and prenatal diagnosis in patients with 6-pyruvoyl-tetra hydropterin synthase deficiency].

Liu N et al.

Zhonghua Fu Chan Ke Za Zhi, 2016

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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."