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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

14 Nov 2023

Abstract excerpt

BACKGROUND: R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. The pathophysiological basis of the different phenotypes is poorly understood. OBJECTIVES: We aimed to identify novel SCA29 and GLSP cases to define core phenotypes,...

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PMID: 37964426
DOI: 10.1002/mds.29651

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