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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
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YANOSIK, JUSTIN
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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
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PubMed
subject areas
Adolescent
Adult
Autistic Disorder
Carrier Proteins
Child
Child, Preschool
Electroencephalography
Epilepsy
Female
Haploinsufficiency
Heterozygote
Humans
Intellectual Disability
Loss of Function Mutation
Male
Microfilament Proteins
Phenotype
Problem Behavior
Seizures
Spectrin
Young Adult
authors with profiles
CHRISTINE ENG
BRENDAN LEE
LINDSAY BURRAGE
FAN XIA
JENNIFER POSEY