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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease norrie disease
Symptom C1384666|hearing loss
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PubMedID- 24324409 Thus, while often related to hereditary hearing disorders in humans, gene-targeted models can be overly specific e.g., a mouse model of the rare x-linked genetic mutation leading to progressive hearing loss associated with norrie disease (berger et al., 1996), such that data from these animals may not be generalizable to a large population of people with hearing impairments of varied origins.

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