Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5214P
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KMT2D

NM_003482.4:p.R5214P

Associated Papers

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP

DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.

Andersson N et al.

Communications Biology, 2021

34545199 (PubMed )
Supplement: 42003_2021_2637_MOESM4_ESM.zip › Supplementary_data_6_TRACERx-MAGOS.xlsx › EM_Dev_all
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