Article info

Original research
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Authors

  1. Correspondence to Dr Christopher Grunseich, Neurogenetics Branch, NINDS, Bethesda, Maryland, USA; christopher.grunseich{at}nih.gov; Dr Ami Mankodi; ami.mankodi{at}nih.gov
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Citation

Grunseich C, Sarkar N, Lu J, et al
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Publication history

  • Received October 24, 2020
  • Revised April 10, 2021
  • Accepted May 5, 2021
  • First published June 8, 2021.
Online issue publication 
October 13, 2021

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