Associated Papers
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
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
Richards AJ et al.
Human Mutation, 2010
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S et al.
American Journal of Human Genetics, 1999
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