Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.L802P
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ATP1A3

NM_152296.5:p.L802P

Associated Papers

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

Huang D et al.

European Journal of Pediatrics, 2023

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

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

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

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

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

Capuano A et al.

The Application of Clinical Genetics, 2020

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.

Yang X et al.

Clinical Genetics, 2019

30891744 (PubMed )
Supplement: CGE-96-43-s001.docx

[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].

Yang X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

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

Yang X et al.

Plos One, 2014

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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."