Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q336R
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PAH

NM_000277.3:p.Q336R

Associated Papers

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

Cao YY et al.

Molecular Genetics and Metabolism, 2014

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.

Zhu T et al.

Pediatric Research, 2010

Phenylketonuria mutations in Northern China.

Song F et al.

Molecular Genetics and Metabolism, 2005

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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."