All reported non-canonical splice site variants in GLA cause aberrant splicing.

Eri OkadaTomoko HorinouchiTomohiko YamamuraYuya AotoRyota SuzukiYuta IchikawaYu TanakaChika MasudaHideaki KitakadoAtsushi KondoNana SakakibaraShinya IshikoChina NaganoShingo IshimoriJoichi UsuiKunihiro YamagataMasafumi MatsuoKandai Nozu

Published in: Clinical and experimental nephrology (2023)

Validation of splicing effects using an in vitro splicing assay is useful for confirming pathogenicity and determining associations with clinical phenotypes.

Keyphrases

high throughput
copy number
dna methylation
cystic fibrosis
gene expression