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
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
Jung J et al.
Scientific Reports, 2018
30413759 (PubMed )
Supplement: 41598_2018_34876_MOESM1_ESM.pdf
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