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The novel ITPR1 p.Phe2566Ser variant impairs IP3R1-mediated Ca2+ release and is associated with ataxia and miosis

Josephine Wincent1,2, Songbai Zhang3, Andrew Nolan4

  • 1Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

Journal of Internal Medicine
|February 28, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
ataxiacalcium signalingitpr1miosis

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