Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P4353L
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KMT2D

NM_003482.4:p.P4353L

Associated Papers

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

An Investigation of the Immune Microenvironment and Genome during Lung Adenocarcinoma Development.

Wang Q et al.

Journal of Cancer, 2024

38370388 (PubMed )
Supplement: jcav15p1687s1.zip › Supplementary_Materials › Clinical_and_Genomic_Data.xlsx › Gene_mutation

A Molecular Evolutionary Reference for the Human Variome.

Liu L et al.

Molecular Biology and Evolution, 2016

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P et al.

Clinical Genetics, 2013

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Banka S et al.

European Journal of Human Genetics : Ejhg, 2012

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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."