Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2324insFs
Back to variants list

KMT2D

NM_003482.4:p.P2324insFs

Associated Papers

Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

Gohda Y et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

Hypoglycemia in Kabuki syndrome.

Subbarayan A et al.

American Journal of Medical Genetics. Part A, 2014

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."