Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.S2366P
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ANK3

NM_020987.5:p.S2366P

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-s003.xlsx › Foglio1

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

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Al-Dewik N et al.

American Journal of Medical Genetics. Part A, 2019

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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."