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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Spinocerebellar Ataxia 29[original query]
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
European journal of human genetics : EJHG 2018 Nov 26 (11): 1623-1634.
Synofzik Matthis, Helbig Katherine L, Harmuth Florian, Deconinck Tine, Tanpaiboon Pranoot, Sun Bo, Guo Wenting, Wang Ruiwu, Palmaer Erika, Tang Sha, Schaefer G Bradley, Gburek-Augustat Janina, Züchner Stephan, Krägeloh-Mann Ingeborg, Baets Jonathan, de Jonghe Peter, Bauer Peter, Chen S R Wayne, Schöls Ludger, Schüle Rebec
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