Varaico: Literature-Extracted Genetic Variants

Gene:ANO3
Variant:p.N648S
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ANO3

NM_031418.4:p.N648S

Associated Papers

ANO3-related tremulous dystonia: case report.

Altıntaş M et al.

Acta Neurologica Belgica, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

Hereditary Truncal Dystonia Associated with ANO3 Gene Variant.

Mônaco Gama S et al.

Movement Disorders Clinical Practice, 2025

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

Percetti M et al.

Movement Disorders Clinical Practice, 2024

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.

Aihara Y et al.

Journal of Human Genetics, 2023

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

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

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

Delamarre A et al.

Parkinsonism & Related Disorders, 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."