Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.I810N
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ATP1A1

NM_000701.8:p.I810N

Associated Papers

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.

Capuano A et al.

The Application of Clinical Genetics, 2020

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann KP et al.

American Journal of Human Genetics, 2018

The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.

Kinoshita PF et al.

Frontiers in Physiology, 2016

Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.

Holm TH et al.

Frontiers in Physiology, 2016

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

Yang X et al.

Plos One, 2014

Zebrafish as a novel model to assess Na+/K(+)-ATPase-related neurological disorders.

Doğanli C et al.

Neuroscience and Biobehavioral Reviews, 2013

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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."