Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.C5092R
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KMT2D

NM_003482.4:p.C5092R

Associated Papers

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.

Boniel S et al.

Frontiers in Genetics, 2024

KMT2D mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-induced regulatory T cell trafficking via FBXW7-NOTCH-MYC/TGF-β1 axis.

Liu QX et al.

International Journal of Biological Sciences, 2024

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __
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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."