Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q355_Y356Splc
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PAH

NM_000277.3:p.Q355_Y356Splc

Associated Papers

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.

Leuzzi V et al.

Journal of Inherited Metabolic Disease, 2006

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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."