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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease supravalvar aortic stenosis
Comorbidity C0175702|williams-beuren syndrome
Sentences 1
PubMedID- 25428557 Included in the duplicated region is elastin (eln), implicated as the cause of supravalvar aortic stenosis in patients with williams-beuren syndrome.

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