Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.M1191V
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KMT2A

NM_001197104.2:p.M1191V

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

35727845 (PubMed )
Supplement: pgen.1010278.s007.pdf
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