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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.G904_S905del2

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CREBBP

NM_004380.3:p.G904_S905del2

hg38:chr16:3770733 ACTGAGC>A

Associated Papers

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH et al.

Expert Reviews in Molecular Medicine, 2007

17942008 (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."