Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3759*
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KMT2D

NM_003482.4:p.Q3759*

Associated Papers

SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.

Portelinha A et al.

The Journal of Experimental Medicine, 2024

39235528 (PubMed )
Supplement: JEM_20231143_TableS3.xlsx › KMT2D_MSK_dataset

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP

Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients.

Jiménez-Ubieto A et al.

Frontiers in Immunology, 2023

37342332 (PubMed )
Supplement: Table_2.xlsx › Sheet1

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

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Rao A et al.

Bmc Medical Genomics, 2018

29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
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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."