Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.F1633del1
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CREBBP

NM_004380.3:p.F1633del1

Associated Papers

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Haghshenas S et al.

Hgg Advances, 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

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.

Wang Q et al.

Journal of Molecular Neuroscience : Mn, 2021

Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing.

Somayyeh Heidargholizadeh G et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."