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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease 15q13.3 microdeletion syndrome
Comorbidity C0270850|idiopathic generalized epilepsy
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PubMedID- 23010752 For example, under reasonable assumptions, the 15q13.3 microdeletion in idiopathic generalized epilepsy, with an or estimate of 68 in large case-control studies, is expected to be present in >95% of affected first-degree relatives of variant-carrying probands.

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