Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S2590*
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KMT2D

NM_003482.4:p.S2590*

Associated Papers

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

Expression Analysis and Mutational Status of Histone Methyltransferase KMT2D at Different Upper Tract Urothelial Carcinoma Locations.

Laukhtina E et al.

Journal of Personalized Medicine, 2021

34834500 (PubMed )
Supplement: jpm-11-01147-s001.zip › jpm-1396509-SUPPLEMENTARY.xlsx › Sheet1

Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance).

Augert A et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 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."