Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S349T
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PAH

NM_000277.3:p.S349T

Associated Papers

Functional analysis, using in vitro mutagenesis, of amino acids located in the phenylalanine hydroxylase active site.

Jennings IG et al.

Archives of Biochemistry and Biophysics, 2000

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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."