Associated Papers
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.
Maroofian R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F et al.
Clinical Genetics, 2024
Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
Fang X et al.
Cold Spring Harbor Molecular Case Studies, 2023
37263801 (PubMed )
Supplement: supp_mcs.a006233_Supplemental_Table_1.xlsx › ANK3_reported_variants
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.
Younus M et al.
Molecular Syndromology, 2023
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Kloth K et al.
Neurogenetics, 2021
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Khan MA et al.
Annals of Human Genetics, 2016
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