Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

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Authors: Jussi Pekka Tolonen MD, PhD, Ricardo Parolin Schnekenberg MD, Simon McGowan PhD, David Sims PhD, Meriel McEntagart FRCP, Frances Elmslie MD, FRCP, Debbie Shears MBBS, PhD, Helen Stewart MD, FRCP, George K. Tofaris FRCP, PhD, Tabib Dabir MD, DCH, MRCP, Patrick J. Morrison DSc, Diana Johnson BM, BSc, MD, Marios Hadjivassiliou MD, PhD, Sian Ellard PhD, FRCPath, Charles Shaw-Smith MRCP, PhD, Anna Znac

Journal title: Movement Disorders

Journal publisher: John Wiley & Sons Inc.

Published year: 2023

DOI identifier: 10.1002/mds.29651

ISSN: 0885-3185