Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3993*
Back to variants list

KMT2D

NM_003482.4:p.Q3993*

Associated Papers

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Doğan Arı AB et al.

European Journal of Medical Genetics, 2025

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

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Frauenfeld L et al.

Blood Advances, 2022

34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf
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."