Varaico: Literature-Extracted Genetic Variants

Gene:P4HTM
Variant:p.E178G
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P4HTM

NM_177939.3:p.E178G

Associated Papers

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients.

Pérez B et al.

Molecular Genetics and Metabolism, 2005

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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."