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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.Y1175fs

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CREBBP

NM_004380.3:p.Y1175fs

hg38:chr16:3757895 ATA>N

Associated Papers

Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein-Taybi syndrome.

Matsubara K et al.

Seizure, 2025

40451035 (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."