Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.
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| Description | scientific article published on 6 June 2016 |
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author: Nitza Goldenberg-Cohen Shay Tzur Concetta Bormans Doron M. Behar Eyal Reinstein |
| Publication date | June 6, 2016 |
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