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Contemporary Presentation and Management of Valvular Heart Disease The EURObservational Research Programme Valvular Heart Disease II Survey
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Rare genetic variants in MEPE cause congenital facial paresis with stapes fixation, and are associated with otosclerosis
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)