The association between OBSCN (Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF) and Deafness, Autosomal Recessive 120 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.
Sources1
Clinical variants1
Symptoms2
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.