Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4045*
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KMT2D

NM_003482.4:p.Q4045*

Associated Papers

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Hayes JP et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders.

Dale RC et al.

Developmental Medicine and Child Neurology, 2025

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM9_ESM.xlsx › SuppTable6_mMIBC-Somatic_alt

Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome.

Tsang E et al.

Ebiomedicine, 2024

Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients.

Canto LM et al.

Cancers, 2022

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1
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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."