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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype C0024437|macular degeneration
Sentences 2
PubMedID- 24101804 ataxia with macular degeneration is associated with medium-sized repeats.
PubMedID- 25066259 Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin e deficiency with a novel c.717 del c mutation in the ttpa gene.

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