Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.E1368fs
Back to variants list

KAT6B

NM_012330.4:p.E1368fs

Associated Papers

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Yabumoto M et al.

Molecular Genetics & Genomic Medicine, 2021

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Brea-Fernández A et al.

American Journal of Medical Genetics. Part A, 2019

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."