Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.Q1456Fs
Back to variants list

KAT6B

NM_012330.4:p.Q1456Fs

Associated Papers

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K 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."