Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q2208H
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CREBBP

NM_004380.3:p.Q2208H

Associated Papers

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

PTEN deletion drives acute myeloid leukemia resistance to MEK inhibitors.

Smith AM et al.

Oncotarget, 2019

FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Shi E et al.

Journal of Translational Medicine, 2016

27974047 (PubMed )
Supplement: 12967_2016_1075_MOESM3_ESM.xlsx › Table_S7

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Bartsch O et al.

Human Genetics, 2005

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.

Pöyhönen MH et al.

Clinical Dysmorphology, 2004

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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."