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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 03 05; 106(3):405-411.
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PubMed
subject areas
Adolescent
Child
Child, Preschool
Facies
Female
Humans
Infant
Intellectual Disability
Male
Mutation, Missense
Neurodevelopmental Disorders
Nuclear Proteins
Repressor Proteins
Skull
Young Adult
authors with profiles
Daniela Del Gaudio