Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y417*
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PAH

NM_000277.3:p.Y417*

Associated Papers

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

Kuznetcova I et al.

Metabolic Brain Disease, 2019

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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."