Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?

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Title Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?
Creator Jason A. Zehden; Subahari Raviskanthan; Peter W. Mortensen; Marc Ferré; Pascal Reynier; Dan Milea; Andrew G. Lee
Affiliation Baylor College of Medicine (JZ), Houston, Texas, US; Department of Ophthalmology (SR, PWM, AGL), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; MITOVASC Institute (MF, PR, DM), CNRS 6015, INSERM U1083, University of Angers, France; Singapore National Eye Center (DM), Singapore, Singapore; Singapore Eye Research Institute (DM), Singapore, Singapore; Duke-NUS Medical School (DM), Singapore, Singapore; Copenhagen University Hospital Denmark (DM), Copenhagen, Denmark; Departments of Ophthalmology (AGL), Neurology, and Neurosurgery, Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas; University of Texas MD Anderson Cancer Center (AGL), Houston, Texas; Texas A and M College of Medicine (AGL), Bryan, Texas; and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa
Subject Mutation Optic Atrophy; Autosomal Dominant Optic Atrophy; Pedigree Virulence
OCR Text Show
Date 2022-06
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, June 2023, Volume 43, Issue 2
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s66ykjpa
Setname ehsl_novel_jno
ID 2307880
Reference URL https://collections.lib.utah.edu/ark:/87278/s66ykjpa
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