Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease Journal Articles Refereed uri icon

Overview

Published in

  • European Journal of Human Genetics

Time

Date/time value

  • 2017

Identity

Digital Object Identifier (DOI)

  • 10.1038/ejhg.2016.128

Additional Document Info

Parent Title

  • EUROPEAN JOURNAL OF HUMAN GENETICS

Volume

  • 25

Issue

  • 1

Publisher

  • Nature Publishing Group