Results 191 to 196 of about 314 (196)

A deep intronic BTK variant underlies X-linked agammaglobulinemia

Journal of Clinical Immunology
Shoichiro Tateishi, Shoichi Shimizu, Kunihiko Moriya, Hirokazu Kanegane, Kohsuke Imai   +4 more
openaire   +1 more source

Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism

Genetics in Medicine, 2020
Valentina Bollati, Francesca Granata, Elena Di Pierro   +2 more
exaly  

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

Breast
Petra Kleiblova, Milena Hovhannisyan, Maria Janíková   +2 more
exaly  

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

European Journal of Medical Genetics
Raymond O'Keefe, Huw B Thomas, Jill Urquhart   +2 more
exaly  

Deep intronic variant in TYR causes OCA1A in Japanese families through pseudoexon activation

Journal of Dermatological Science
Ken, Okamura, Toru, Saito, Sachiko, Ohori, Fumio, Takada, Toshifumi, Nomura, Etsuko, Oba, Yutaka, Hozumi, Tamio, Suzuki   +7 more
openaire   +2 more sources

A deep intronic founder variant in the SERPINB7 gene causing aberrant splicing is a potential therapeutic target for Nagashima-type palmoplantar keratoderma

Journal of Dermatological Science
exaly