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A recurrent missense variant in ITPR3 causes demyelinatin... | ResearchHub
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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
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Authors
Danique Beijer
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Danique Beijer
•
Maike Dohrn
24 more
•
Stephan Züchner
Published
June 24, 2024
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Journal
Brain
Topics
Biology
Cellular And Molecular Neuroscience
Rheumatology
Phenotype
Sanger Sequencing
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DOI
10.1093/brain/awae206