Varaico: Literature-Extracted Genetic Variants

Gene:ANO3
Variant:p.R969Q
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ANO3

NM_031418.4:p.R969Q

Associated Papers

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

Role of ANO3 mutations in dystonia: A large-scale mutational screening study.

Olschewski L 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

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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."