Associated Papers
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Musolf AM et al.
Communications Biology, 2023
36596879 (PubMed )
Supplement: 42003_2022_4323_MOESM7_ESM.xlsx › SData32
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.
Thongpradit S et al.
Scientific Reports, 2020
32728090 (PubMed )
Supplement: 41598_2020_69633_MOESM1_ESM.pdf
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.
Kim YR et al.
Plos One, 2015
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