Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.R2423C
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ANK3

NM_020987.5:p.R2423C

Associated Papers

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
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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."