Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion

Published 2016 View Full Article

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Title
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
Authors
Keywords
Mitochondrial DNA depletion, POLG2, Hepatic failure, Whole-exome sequencing, POLG
Journal
European Journal of Medical Genetics
Volume 59, Issue 10, Pages 540-545
Publisher
Elsevier BV
Online
2016-09-09
DOI
10.1016/j.ejmg.2016.08.012

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