Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.Q3023delFs
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KMT2A

NM_001197104.2:p.Q3023delFs

Associated Papers

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

Foroutan A et al.

International Journal of Molecular Sciences, 2022

Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.

Matis T et al.

The Journal of Gene Medicine, 2020

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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."