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Paper Details

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Pediatr Neurol
0
2023
Ala68Thr, Children, Global Developmental Delay, Gly21Arg, Intellectual Disability, RAB11B, Val22Met, amino acid, amino acid positions 21, epilepsy, intellectual disability, muscular hypotonia, neurodevelopmental disorder, neurodevelopmental disorders, nucleotide, positions, structural brain anomalies, visual impairment
Author NameAffiliation
George E TillerKaiser Permanente
Matias SimonsInstitute of Human Genetics, University Hospital Heidelberg
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Release 1.2