Associated Papers
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A et al.
Orphanet Journal of Rare Diseases, 2022
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
Nash BM et al.
European Journal of Human Genetics : Ejhg, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
Select a paper to view details