Varaico: Literature-Extracted Genetic Variants

Gene:ATP8A2
Variant:p.G447A
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ATP8A2

NM_016529.6:p.G447A

Associated Papers

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Flannery KP et al.

Neurogenetics, 2024

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.

Matsell E et al.

Disease Models & Mechanisms, 2024

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Flannery KP et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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