SPTBN1 remains in the infant stages of research. Our hope is to continously update our community with the latest research findings as they become available. Please continue to visit us here for future updates.
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Nature Genetics
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
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Nature Reviews Neuroscience
Spectrins: molecular organizers and targets of neurological disorders

The fight starts here.