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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840.
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PubMed
subject areas
Adolescent
Alleles
Brain
Child
Child, Preschool
Female
Gene Expression Regulation, Developmental
Heterozygote
Humans
Infant
Male
Mutation
Neurodevelopmental Disorders
Rare Diseases
RNA Splice Sites
RNA, Small Nuclear
Spliceosomes
Syndrome
Young Adult
authors with profiles
Sebastian Fica