Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.C596Y
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ATP1A3

NM_152296.5:p.C596Y

Associated Papers

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

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

De novo ATP1A3 variants cause polymicrogyria.

Miyatake S et al.

Science Advances, 2021

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