Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.I318M
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ATP1A3

NM_152296.5:p.I318M

Associated Papers

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

34612482 (PubMed )
Supplement: dmm-14-048938-s1.pdf

Exome sequencing in paediatric patients with movement disorders.

Kwong AK et al.

Orphanet Journal of Rare Diseases, 2021

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.

Wang W et al.

Frontiers in Cell and Developmental Biology, 2021

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

Fung JLF et al.

Npj Genomic Medicine, 2020

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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."