Varaico: Literature-Extracted Genetic Variants

Gene:KMT2C
Variant:p.T2824fs
Back to variants list

KMT2C

NM_170606.3:p.T2824fs

Associated Papers

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Rots D et al.

American Journal of Human Genetics, 2024

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."