Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
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Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1.
Nat Genet. 2021.
PMID: 34211179
Free PMC article.
