Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3867K
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KMT2D

NM_003482.4:p.Q3867K

Associated Papers

Concurrent Waldenstrom's Macroglobulinemia and Myelodysplastic Syndrome with a Sequent t(10;13)(p13;q22) Translocation.

DeRosa PA et al.

Current Oncology (toronto, Ont.), 2022

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

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_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."