Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.C5117R
Back to variants list

KMT2D

NM_003482.4:p.C5117R

Associated Papers

Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.

Shah SS et al.

American Journal of Medical Genetics. Part A, 2023

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3
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."