Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Y1450H
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CREBBP

NM_004380.3:p.Y1450H

Associated Papers

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

Schwab C et al.

Leukemia, 2023

36550215 (PubMed )
Supplement: 41375_2022_1799_MOESM1_ESM.pdf

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

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

Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.

Pillonel V et al.

Leukemia & Lymphoma, 2020

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Yoo HJ et al.

International Journal of Molecular Sciences, 2015

25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf

Epigenetic mechanisms of Rubinstein-Taybi syndrome.

Park E et al.

Neuromolecular Medicine, 2014

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

Sharma N et al.

Journal of Biosciences, 2010

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH et al.

Expert Reviews in Molecular Medicine, 2007

Aberrant forms of histone acetyltransferases in human disease.

Van Beekum O et al.

Sub-cellular Biochemistry, 2007

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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."