Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.H3637R
Back to variants list

ANK3

NM_020987.5:p.H3637R

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

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

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M et al.

Molecular Autism, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."