Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A - Upadhyai, Priyanka; Radhakrishnan, Periyasamy; Guleria, Vishal S.; Kausthubham, Neethukrishna; Nayak, Shalini S.; Superti‐Furga, Andrea; Girisha, Katta M. (Human mutation, 2021)
Keywords: Achondrogenesis; achondrogenesis 1A; Achondroplasia - genetics; Achondroplasia - pathology; Cell lines; Chondrodystrophy; Cilia; Cytoskeletal Proteins - genetics; deep intronic variant; Fetuses; Fibroblasts; GMAP‐210; Golgi apparatus; Humans; Immunofluorescence; mRNA; Mutation; Osteochondrodysplasias - genetics; Osteochondrodysplasias - pathology; primary cilia; splicing; Transcription; TRIP11; TRIP11; GMAP-210; splicing; deep intronic variant; achondrogenesis 1A; primary cilia