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Paper Details

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Genet Med
34
2019
COL11A1, COL11A1 gene, COL11A1 pathogenic variants, DFNA37, DFNA37 locus, Marshall and Stickler syndromes, RNA, autosomal dominant nonsyndromic hearing loss, c.652-, canonical acceptor splice-site variant, chromosome 1p21, deafness, hearing impairment, locus DFNA37, nonsyndromic deafness, nonsyndromic hearing loss, patients
Author NameAffiliation
Michael S HildebrandEpilepsy Research Centre, University of Melbourne
Katherine R SmithThe Walter and Eliza Hall Institute of Medical Research
Melanie BahloThe Walter and Eliza Hall Institute of Medical Research
Melanie BahloThe University of Melbourne
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