Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2442fs
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KMT2D

NM_003482.4:p.P2442fs

Associated Papers

Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.

Takemon Y et al.

Genome Medicine, 2024

39578878 (PubMed )
Supplement: 13073_2024_1401_MOESM2_ESM.xlsx › B_-_WRN_KO_-_DepMap_muts.

ASXLs binding to the PHD2/3 fingers of MLL4 provides a mechanism for the recruitment of BAP1 to active enhancers.

Zhang Y et al.

Nature Communications, 2024

38849395 (PubMed )
Supplement: 41467_2024_49391_MOESM2_ESM.pdf

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP

SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.

Ren Y et al.

Genomics, Proteomics & Bioinformatics, 2020

32428603 (PubMed )
Supplement: mmc6.xlsx › HD701
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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."