Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.P1948L
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CREBBP

NM_004380.3:p.P1948L

Associated Papers

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

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

Two novel BMP-2 variants identified in patients with thoracic ossification of the ligamentum flavum.

Qu X et al.

European Journal of Human Genetics : Ejhg, 2017

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