Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.R1182H
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KMT2A

NM_001197104.2:p.R1182H

Associated Papers

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
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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."