Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.E134D
Back to variants list

PTS

NM_000317.3:p.E134D

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

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Chiu YH et al.

Journal of Human Genetics, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."