Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.K839_A840delFs
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KDM6A

NM_001291415.2:p.K839_A840delFs

Associated Papers

Typical facial gestalt in X-linked Kabuki syndrome.

Margot H et al.

American Journal of Medical Genetics. Part A, 2016

Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Stagi S et al.

Immunologic Research, 2016

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Lederer D et al.

American Journal of Medical Genetics. Part A, 2014

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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."