Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B2
Variant:p.V1113delFs
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ATP2B2

NM_001001331.4:p.V1113delFs

Associated Papers

Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia?

Peggion C et al.

Biology Direct, 2025

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Poggio E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Park S et al.

Frontiers in Genetics, 2022

36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2
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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."