Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S2927*
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KMT2D

NM_003482.4:p.S2927*

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

Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Liu R et al.

Cancer Science, 2023

36601880 (PubMed )
Supplement: CAS-114-1229-s004.xlsx › Mutation_information_

Monitoring of Circulating Tumor DNA Predicts Response to Treatment and Early Progression in Follicular Lymphoma: Results of a Prospective Pilot Study.

Fernández-Miranda I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36269794 (PubMed )
Supplement: ccr-22-1654_supplementary_data_2_suppds2.xlsx › Table_S6__Mutational_data

Genomic profiling of metaplastic breast carcinomas reveals genetic heterogeneity and relationship to ductal carcinoma.

Krings G et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

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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."