Associated Papers
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Acke FR et al.
Molecular Genetics and Metabolism, 2014
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