Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3903*
Back to variants list

KMT2D

NM_003482.4:p.Q3903*

Associated Papers

Clinically Significant Genetic Results in Fetuses With Isolated Horseshoe Kidney.

Yu QX et al.

Prenatal Diagnosis, 2026

Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Liu R et al.

Cancer Science, 2023

36601880 (PubMed )
Supplement: CAS-114-1229-s004.xlsx › Mutation_information_

Growth pattern in Kabuki syndrome with a KMT2D mutation.

Schott DA et al.

American Journal of Medical Genetics. Part A, 2016

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

Makrythanasis P et al.

Clinical Genetics, 2013

A mutation screen in patients with Kabuki syndrome.

Li Y et al.

Human Genetics, 2011

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Paulussen AD et al.

Human Mutation, 2011

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."