Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Published 2018 View Full Article

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Title
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 102, Issue 4, Pages 685-695
Publisher
Elsevier BV
Online
2018-03-22
DOI
10.1016/j.ajhg.2018.02.012

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