Varaico: Literature-Extracted Genetic Variants

Gene:ANO3
Variant:p.K862N
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ANO3

NM_031418.4:p.K862N

Associated Papers

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

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

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

Li S et al.

Frontiers in Neurology, 2019

Youngest presenting patient with dystonia 24 and review of the literature.

Nelin S et al.

Clinical Case Reports, 2018

A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia.

Yoo HS et al.

Journal of Clinical Neurology (seoul, Korea), 2018

30284773 (PubMed )
Supplement: jcn-14-596-s002.pdf

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Blackburn PR et al.

Bmc Medical Genetics, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Mutations in CIZ1 are not a major cause for dystonia in Germany.

Dufke C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.

Ma LY et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Recent advances in the genetics of dystonia.

Xiao J et al.

Current Neurology and Neuroscience Reports, 2014

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

Charlesworth G et al.

American Journal of Human Genetics, 2012

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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."