The novel ITPR1 p.Phe2566Ser variant impairs IP 3 R1‐mediated Ca 2+ release and is associated with ataxia and miosis

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: Josephine Wincent, Songbai Zhang, Andrew Nolan, Shigeaki Kanatani, Frida Nordin, Malin Kvarnung, Per Uhlén, Martin Paucar, Ilse Eidhof
Format: Artículo Open Access
Published: Wiley 2026
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