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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2B2

Variant:p.L1089delFs

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ATP2B2

NM_001683.5:p.L1089delFs

hg38:chr3:10338193 TCA>T

Associated Papers

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Stehr AM et al.

Clinical Genetics, 2025

39367743 (PubMed )

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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."