Publications
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Filters: Author is Mitani, Tadahiro and Keyword is Developmental Disabilities [Clear All Filters]
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 ;89(4):828-833.
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