Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G148D
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PAH

NM_000277.3:p.G148D

Associated Papers

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF et al.

Molecular Genetics and Metabolism, 2011

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

Pérez-Dueñas B et al.

Clinical Biochemistry, 2004

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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."