Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.P67L
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TH

NM_000360.4:p.P67L

Associated Papers

Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.

Liu TT et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2001

Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Liu TT et al.

Human Mutation, 2001

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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."