Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.Y1467insFs
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EP300

NM_001429.4:p.Y1467insFs

Associated Papers

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Wincent J et al.

Molecular Genetics & Genomic Medicine, 2016

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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."