The association between LOC112163633 (H3K27ac HESC Enhancers GRCh37_chr12:80328263-80328826 And GRCh37_chr12:80328827-80329392) and Genitourinary And/Or Brain Malformation Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.
Sources1
Clinical variants1
Symptoms108
Compounds0
Trials0
Publications0
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At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.