Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay
نویسندگان
چکیده
منابع مشابه
Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients
Bardet-Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS/ALMS cohorts have been extensively reported, little is known about the functional effect of those changes. Thus, splicing variants are estimated to represent 15% of disease-causing mutations, and there is growing evidence that many exonic...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2018
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-018-0288-y