Results 141 to 150 of about 806,334 (155)

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome. [PDF]

J Pathol
Shi T, Huang Y, Su X, Yu L, Zhao Y, Cheng J.   +5 more
europepmc   +1 more source

A novel <i>ABO</i> splice site variant underlying the A₃ phenotype: immunogenetic basis and functional dissection. [PDF]

Front Genet
Guan HL, Hou J, Gao JL, Li J, Zhang XM, Chen X, Fu XM.   +6 more
europepmc   +1 more source

Splicing defect and functional characterization of the ETFDH c.1049G > A VUS underlying transient MADD: an iPSC and minigene study. [PDF]

Orphanet J Rare Dis
Dong R, Wang X, Zhang H, Liu G.
europepmc   +1 more source

Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress

International Journal of Molecular Sciences, 2021
Splicing is an important RNA processing step. Genetic variations can alter the splicing process and thereby contribute to the development of various diseases.
Michael Hecker, Peter A. Lorenz, Brit Fitzner   +2 more
exaly   +2 more sources

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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

Cancers, 2021
Leonardo Salviati, Maurizio Clementi, Eva Trevisson   +2 more
exaly  

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay

Human Mutation, 2021
Zhiying Liu, Ruixiao Zhang, Irene Bottillo   +2 more
exaly  

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Human Mutation, 2020
Nicolas Levy, Svetlana Gorokhova, Aurélia Defour   +2 more
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 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 for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

Molecular Genetics & Genomic Medicine, 2015
Carli M J Tops, Peter Devilee, Anne M L Jansen   +2 more
exaly