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1.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
2.
Weisschuh, N.* et al.: Mutation detection in patients with retinal dystrophies using targeted next generation sequencing. PLoS ONE 11:e0145951 (2016)