Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.D591V
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ATP1A3

NM_152296.5:p.D591V

Associated Papers

Paediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood.

O Dwyer G et al.

Ophthalmic Genetics, 2025

Atp1b2Atp1b1 Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype.

Bartsch S et al.

Cells, 2025

Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.

Rissardo JP et al.

Rambam Maimonides Medical Journal, 2024

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.

Zhou GH et al.

Human Genetics, 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."