Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.P879_P880insFs
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CREBBP

NM_004380.3:p.P879_P880insFs

Associated Papers

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Maciaszek JL et al.

Cold Spring Harbor Molecular Case Studies, 2019

31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S4

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.

Jin W et al.

Human Genetics, 2008

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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."