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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.G31_S32delFs

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CREBBP

NM_004380.3:p.G31_S32delFs

hg38:chr16:3851000 GAT>G

Associated Papers

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Cieślikowska A et al.

Genes, 2025

41153422 (PubMed )

Supplement: genes-16-01206-s001.zip › genes-3857292-supplementary.xlsx › Table_2_odp_recenzje

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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."