Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion-Reference-Cited by-同舟云学术

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

Published:2016-10 Issue:10 Volume:59 Page:540-545
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Varma Hemant,Faust Phyllis L.,Iglesias Alejandro D.,Lagana Stephen M.,Wou Karen,Hirano Michio,DiMauro Salvatore,Mansukani Mahesh M.,Hoff Kirsten E.,Nagy Peter L.,Copeland William C.,Naini Ali B.^ORCID

Funder

National Institutes of Health

National Institute of Environmental Health Sciences

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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