Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.H67_K68delFs
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CREBBP

NM_004380.3:p.H67_K68delFs

Associated Papers

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Tang Y et al.

Human Molecular Genetics, 2026

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

Rubinstein-Taybi syndrome in diverse populations.

Tekendo-Ngongang C et al.

American Journal of Medical Genetics. Part A, 2020

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3
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