Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.G5182insFs
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KMT2D

NM_003482.4:p.G5182insFs

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_

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Lehman N et al.

Clinical Genetics, 2017

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N et al.

Human Mutation, 2016

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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."