Results 161 to 166 of about 4,405 (166)
Some of the next articles are maybe not open access.

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   +2 more
exaly  

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

Clinical Chemistry and Laboratory Medicine, 2015
Leonardo Salviati   +2 more
exaly  

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

Frontiers in Pediatrics
Huiqing Ding, Ding Huiqing
exaly  

Functional Characterization of HGD Gene Variants by Minigene Splicing Assay

International Journal of Molecular Sciences
Ekaterina Zakharova   +2 more
exaly  

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay

Clinical Genetics
Irène Bottillo
exaly  

Minigene splicing reporter assay: An interesting and useful approach for genetic diagnosis in familial hypobetalipoproteinemia

Atherosclerosis
Zoé Henry   +8 more
openaire   +1 more source
minigene
minigene assay
splicing
alport syndrome
whole-exome sequencing
col4a5
intronic variant
whole exome sequencing
hearing loss
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