Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG5
Variant:p.E328_K329Splc
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PLEKHG5

NM_020631.6:p.E328_K329Splc

Associated Papers

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

ter Veld F et al.

Plos One, 2009

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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."