Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N426D
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PAH

NM_000277.3:p.N426D

Associated Papers

Probing the role of crystallographically defined/predicted hinge-bending regions in the substrate-induced global conformational transition and catalytic activation of human phenylalanine hydroxylase by single-site mutagenesis.

Stokka AJ et al.

The Journal of Biological Chemistry, 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."