Results 181 to 185 of about 537,790 (185)

An intronic variant in contributes to junctional epidermolysis bullosa and enamel hypoplasia via translational attenuation

Archives of Oral Biology
Man Qin, Cristina Has, Xin Wang
exaly  

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

European Journal of Medical Genetics
Raymond T O'Keefe, Huw B Thomas, Jill E. Urquhart   +2 more
exaly  

Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome

Frontiers in Pediatrics
Myungshin Kim, Hoon Seok Kim, Yeonhee Lee   +2 more
exaly  

Aberrant transcription caused by an intronic non-canonical CDH1 variant

Familial Cancer
Ahmed, Bouras, Chloé, Grand-Masson, Cedrick, Lefol, Eric, Ruano, Fabienne, Prieur, Qing, Wang   +5 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