Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.P1983fs
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CREBBP

NM_004380.3:p.P1983fs

Associated Papers

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Choi N et al.

Molecular Genetics & Genomic Medicine, 2021

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Van Gils J et al.

Genes, 2021

34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Lee JS et al.

Brain & Development, 2015

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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."