Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R84C
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KMT2D

NM_003482.4:p.R84C

Associated Papers

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

The Molecular Landscape of 227 Adult Granulosa Cell Tumors of the Ovary: Insights into the Progression from Primary to Recurrence.

Michálková R et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Epigenetic regulation during cancer transitions across 11 tumour types.

Terekhanova NV et al.

Nature, 2023

Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Lee K et al.

Scientific Reports, 2023

Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.

Liao C et al.

The International Journal of Biological Markers, 2022

35505597 (PubMed )
Supplement: sj-xlsx-3-jbm-10.1177_03936155221095574.xlsx › Sheet1

Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.

Tønne E et al.

American Journal of Medical Genetics. Part A, 2022

Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

Pilsworth JA et al.

The Journal of Pathology. Clinical Research, 2021

Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.

Ho AS et al.

The Journal of Clinical Investigation, 2019

Genomic profiling of metaplastic breast carcinomas reveals genetic heterogeneity and relationship to ductal carcinoma.

Krings G et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Next-generation sequencing of urine specimens: A novel platform for genomic analysis in patients with non-muscle-invasive urothelial carcinoma treated with bacille Calmette-Guérin.

Scott SN et al.

Cancer Cytopathology, 2017

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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."