Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5439G
Back to variants list

KMT2D

NM_003482.4:p.R5439G

Associated Papers

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

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

Lehman N et al.

Clinical Genetics, 2017

Characterization of potential driver mutations involved in human breast cancer by computational approaches.

Rajendran BK et al.

Oncotarget, 2017

28477017 (PubMed )
Supplement: oncotarget-08-50252-s003.docx

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."