Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q887*
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CREBBP

NM_004380.3:p.Q887*

Associated Papers

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy.

Schnitzler T et al.

Cellular Oncology (dordrecht, Netherlands), 2020

32445084 (PubMed )
Supplement: 13402_2020_524_MOESM7_ESM.xlsx › ESM_7

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS et al.

Nature Communications, 2019

31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM7_ESM.xlsx › SuppData6.Sanger_confirmations

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

Merk DJ et al.

Developmental Cell, 2018

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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."