Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.D1166A
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KMT2A

NM_001197104.2:p.D1166A

Associated Papers

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Yoo J et al.

Bmc Medical Genomics, 2025

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.

Reynisdottir T et al.

Plos Genetics, 2022

Solution structure of the nonmethyl-CpG-binding CXXC domain of the leukaemia-associated MLL histone methyltransferase.

Allen MD et al.

The Embo Journal, 2006

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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."