Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.G1465Splc
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CREBBP

NM_004380.3:p.G1465Splc

Associated Papers

Pediatric therapy-related hematologic neoplasms show enrichment for KMT2A rearrangement and lymphoblastic phenotype.

Kovach AE et al.

Leukemia & Lymphoma, 2024

39116419 (PubMed )
Supplement: supplement_1.zip › Supplementary_files › Supp_Table_7.xlsx › Suppl_Table_7

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways.

Roth LP et al.

Journal of Pediatric and Adolescent Gynecology, 2024

Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.

Evrard SM et al.

Haematologica, 2019

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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."