Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.P756_L760ins1
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KMT2B

NM_014727.3:p.P756_L760ins1

Associated Papers

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_4_-_Episignature

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677454 (PubMed )
Supplement: media-1.xlsx › Table_4_-_Episignature

Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.

de Nonneville A et al.

Molecular Oncology, 2024

38923749 (PubMed )
Supplement: MOL2-18-2586-s001.zip › mol213679-sup-0010-TableS7.xlsx › SupTable7

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

Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

Hercules SM et al.

Cancer Causes & Control : Ccc, 2022

35384527 (PubMed )
Supplement: 10552_2022_1574_MOESM4_ESM.xlsx › Table_S6

Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Lang H et al.

Frontiers in Oncology, 2022

36033544 (PubMed )
Supplement: Table_4.xlsx › Variants

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Ciolfi A et al.

Clinical Epigenetics, 2021

34380541 (PubMed )
Supplement: 13148_2021_1145_MOESM9_ESM.xlsx › Foglio1
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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."