Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.G325D
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ATP1A3

NM_152296.5:p.G325D

Associated Papers

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Pavone P et al.

Medicine, 2022

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Smith RS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34161264 (PubMed )
Supplement: pnas.2023333118.sapp.pdf

Combined dystonias: clinical and genetic updates.

Weissbach A et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Salles PA et al.

Frontiers in Neurology, 2021

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.

Prange L et al.

Neurology. Genetics, 2020

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Rao A et al.

Bmc Medical Genomics, 2018

29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
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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."