Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R2099_P2100delFs
Back to variants list

KMT2D

NM_003482.4:p.R2099_P2100delFs

Associated Papers

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N et al.

American Journal of Medical Genetics. Part A, 2013

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."