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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.P1150insFs

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CREBBP

NM_004380.3:p.P1150insFs

hg38:chr16:3757967 A>AG

Associated Papers

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Stef M et al.

European Journal of Human Genetics : Ejhg, 2007

17473832 (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."