Varaico: Literature-Extracted Genetic Variants

Gene:ANO3
Variant:p.S651N
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ANO3

NM_031418.4:p.S651N

Associated Papers

Hereditary Truncal Dystonia Associated with ANO3 Gene Variant.

Mônaco Gama S et al.

Movement Disorders Clinical Practice, 2025

Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1.

Ousingsawat J et al.

Bmc Medicine, 2025

Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.

Ousingsawat J et al.

Brain : a Journal of Neurology, 2024

The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.

Percetti M et al.

Movement Disorders Clinical Practice, 2024

Huntington disease-like phenotype in a patient with ANO3 mutation.

Koya Kutty S et al.

Parkinsonism & Related Disorders, 2021

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation.

Yoo D et al.

Journal of Movement Disorders, 2019

Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.

Delamarre A et al.

Parkinsonism & Related Disorders, 2019

ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing.

Li S et al.

Frontiers in Neurology, 2019

Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant.

Yoo D et al.

Parkinsonism & Related Disorders, 2018

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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."