Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.V1948insFs
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ANK3

NM_020987.5:p.V1948insFs

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

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

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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."