Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P89fs
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PAH

NM_000277.3:p.P89fs

Associated Papers

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.

Karam PE et al.

Gene, 2013

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.

Carter KC et al.

European Journal of Human Genetics : Ejhg, 1998

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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."