Associated Papers
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: Table4.XLS › WES_20220309_T7.JXPES22030004.t
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM4_ESM.xlsx › Sheet1
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.
Barashkov NA et al.
European Journal of Human Genetics : Ejhg, 2021
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