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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CREBBP

Variant:p.E1452_I1453del0

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CREBBP

NM_004380.3:p.E1452_I1453del0

hg38:chr16:3738593 GGATCTC>G

Associated Papers

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P et al.

American Journal of Medical Genetics. Part A, 2016

27648933 (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."