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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0039446|telangiectasia
Sentences 1
PubMedID- 25985083 A wide range of common human disease such as: ataxia telangiectasia, retinitis pigmentosa, breast cancer, and cohen's syndrome are caused by changes in splice site recognition [50,51,52].

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