Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R252R
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PAH

NM_000277.3:p.R252R

Associated Papers

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

Chien YH et al.

Human Mutation, 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."