Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A4965T
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KMT2D

NM_003482.4:p.A4965T

Associated Papers

RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.

Kubota H et al.

Blood Advances, 2024

38127276 (PubMed )
Supplement: BLOODA_ADV-2023-011583-mmc1.xlsx › Sup.9

Mutations in Epigenetic Regulation Genes in Gastric Cancer.

Nemtsova MV et al.

Cancers, 2021

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Application of Next-Generation Sequencing for the Genomic Characterization of Patients with Smoldering Myeloma.

Manzoni M et al.

Cancers, 2020

32456143 (PubMed )
Supplement: cancers-12-01332-s001.pdf

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › MA12_All_HR_

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Rectum

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L et al.

Human Mutation, 2014

24633898 (PubMed )
Supplement: humu0035-0841-SD2.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."