Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.F3699fs
Back to variants list

KMT2D

NM_003482.4:p.F3699fs

Associated Papers

Trio Exome Sequencing in VACTERL Association.

Ćomić J et al.

Kidney International Reports, 2025

Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Krane M et al.

Circulation, 2021

34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1B_WES_results_Munich_cohort

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.

Westphal DS et al.

Clinical Genetics, 2019

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

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."