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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease leber congenital amaurosis
Comorbidity C0456909|vision loss
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PubMedID- 23740938 Truncation mutations are responsible for photoreceptor degeneration and severe early-onset vision loss in leber congenital amaurosis 12 (lca12) patients, the rd3 mouse and the rcd2 collie.

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