Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.A1182_E1183insFs
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CREBBP

NM_004380.3:p.A1182_E1183insFs

Associated Papers

The Genetics of Chiari 1 Malformation.

Yan RE et al.

Journal of Clinical Medicine, 2024

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

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.

Marzuillo P et al.

Bmc Medical Genetics, 2013

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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."