Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3917_L3920del0
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KMT2D

NM_003482.4:p.Q3917_L3920del0

Associated Papers

The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

Bleijenberg AG et al.

The Journal of Pathology, 2022

35143042 (PubMed )
Supplement: PATH-257-239-s001.xlsx › all_driver_genes_15-4-2020

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E et al.

Epigenetics, 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."