Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.P775R
Back to variants list

ATP1A3

NM_152296.5:p.P775R

Associated Papers

Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Mastrangelo M et al.

Frontiers in Neurology, 2022

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

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

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Vetro A et al.

Brain : a Journal of Neurology, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."