Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.E1540fs
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KAT6B

NM_012330.4:p.E1540fs

Associated Papers

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.

Vos N et al.

Epigenomics, 2023

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Aref-Eshghi E et al.

Journal of Human Genetics, 2021

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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."