Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.M2271T
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ANK3

NM_020987.5:p.M2271T

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

40879451 (PubMed )
Supplement: MDS-40-2531-s002.xlsx › Foglio1

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

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1

Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.

Yoon S et al.

Experimental & Molecular Medicine, 2022

35794211 (PubMed )
Supplement: 12276_2022_798_MOESM1_ESM.pdf

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6

The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.

Schuch JB et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."