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Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

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Title: Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
Authors: Ghaleb, Yousra El1 (AUTHOR) yousra.el-ghaleb@i-med.ac.at, Fernández-Quintero, Monica L.2 (AUTHOR), Campiglio, Marta1 (AUTHOR), Tuluc, Petronel3 (AUTHOR), Höing, Ann-Sophie4 (AUTHOR), Kortüm, Fanny4 (AUTHOR), Motazacker, Mahdi M.5 (AUTHOR), Jansen, Iris E.5 (AUTHOR), Elting, Mariet W.5 (AUTHOR), Plomp, Astrid S.5 (AUTHOR), Fischer, Anna-Lena M.6 (AUTHOR), Siu, Victoria M.7 (AUTHOR), Kutsche, Kerstin4,8 (AUTHOR), Flucher, Bernhard E.1 (AUTHOR) bernhard.e.flucher@i-med.ac.at
Source: PLoS Genetics. 8/18/2025, Vol. 21 Issue 8, p1-28. 28p.
Database: Academic Search Ultimate
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ISSN:15537390
DOI:10.1371/journal.pgen.1011828