A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing - Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Moreno Traspas, Ricardo; Chia, Poh Hui; Bonnard, Carine; Szenker‐Ravi, Emmanuelle; Sarıbaş, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; et al. (EMBO molecular medicine, 2023)
Keywords: Alternative splicing; Base Sequence; Bones; Calcification; Collagen; Disease; EMBO11; EMBO16; EMBO25; Exome Sequencing; Exons; Extracellular matrix; Families & family life; Fibroblasts; Fractures; Gene mapping; Genes; Genomes; Humans; Infant, Newborn; Life Sciences; Magnetic resonance imaging; Molecular modelling; mRNA processing; Mutation; Neonates; non‐coding variant; Osteogenesis; Osteogenesis Imperfecta; Patients; Post-transcription; Progeria; RNA, Messenger - genetics; RNA‐seq; SI‐NET‐seq; TAPT1; Transcriptomics; X-rays; non‐coding variant; SI‐NET‐seq; RNA‐seq; Osteogenesis Imperfecta; non-coding variant; SI-NET-seq; RNA-seq; TAPT1