Article

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

2020-11-16

Abstract excerpt

Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood and treatment options are limited. A previous genome-wide association study (GWAS) identified a single association locus in an intronic region of RELN . Here, w...

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Literature Corpus work: cfa2a181-629b-53fc-8590-865fdfe314d3
DOI: 10.1101/2020.11.15.20227868

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