Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.K72_V73Splc
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PCBD1

NM_000281.4:p.K72_V73Splc

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

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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."