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A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Crossref DOI link: https://doi.org/10.1038/s41436-018-0079-4

Published Print: 2019-03

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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