Results 151 to 157 of about 880,486 (157)

Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype

Clinical Chemistry and Laboratory Medicine, 2016
Jian Zeng, Zhihong Wang
exaly  

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Haemophilia, 2019
Yohann Jourdy, Christine Vinciguerra, Christophe Nougier   +2 more
exaly  

Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I

Injury, 2019
Zhihong Wang, Yuxiang Lin
exaly  

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

Frontiers in Genetics
Leping Shao, Xuyan Liu
exaly  

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Frontiers in Genetics
Ruixiao Zhang, Wencong Guo, Xiaomeng Shi
exaly  

Functional Characterization of HGD Gene Variants by Minigene Splicing Assay

International Journal of Molecular Sciences
Beatrisa Rimskaya
exaly  

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

Frontiers in Genetics
exaly