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A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
Authors:Donatella Milani  Laura Fontana  Silvia Motta  Silvia Maria Sirchia  Giulietta Scuvera  Paola Marchisio  Susanna Esposito  Claudia Maria Cinnante  Silvia Maria Tabano  Monica Rosa Miozzo
Affiliation:1. Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy;2. Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy;3. Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy;4. Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Italy;5. Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Italy;6. Neuroradiology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy
Abstract:
Keywords:Gillespie  ITPR1  next generation sequencing  spinocerebellar ataxia  splicing
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