Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.R1151P
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KMT2A

NM_001197104.2:p.R1151P

Associated Papers

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

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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."