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: Table2.XLSX › Sheet1
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
Identification of novel non-synonymous variants associated with type 2 diabetes-related metabolites in Korean population.
Park TJ et al.
Bioscience Reports, 2019
31652446 (PubMed )
Supplement: BSR-2019-0078_supp.pdf
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T et al.
Molecular Genetics & Genomic Medicine, 2019
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