Varaico: Literature-Extracted Genetic Variants

Gene:ANO3
Variant:p.Y655_I656ins0
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ANO3

NM_031418.4:p.Y655_I656ins0

Associated Papers

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

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

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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."