Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4180*
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KMT2D

NM_003482.4:p.Q4180*

Associated Papers

Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.

Rivas-Delgado A et al.

Hemasphere, 2024

39380845 (PubMed )
Supplement: HEM3-8-e70024-s001.xlsx › ST7

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Murakami H et al.

American Journal of Medical Genetics. Part A, 2020

Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.

Dalin MG et al.

Nature Communications, 2017

29084941 (PubMed )
Supplement: 41467_2017_1178_MOESM4_ESM.xlsx › Somatic_mutations
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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."