Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q419P
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PAH

NM_000277.3:p.Q419P

Associated Papers

Prenatal diagnosis of Chinese families with phenylketonuria.

Liu N et al.

Genetics and Molecular Research : Gmr, 2015

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

Daniele A et al.

Annals of Human Genetics, 2007

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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."