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Kai Wang et al.
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Heng Li et al.
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Denis Pierron et al.
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Autosomal dominant optic atrophy:: Penetrance and expressivity in patients with OPA1 mutations
Amn C. Cohn et al.
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A. Cevik Tufan et al.
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K Schulze-Bonsel et al.
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P Reynier et al.
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ML Valentino et al.
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PF Chinnery et al.
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