Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.N2517S
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KMT2D

NM_003482.4:p.N2517S

Associated Papers

Mutations in histone lysine methyltransferase genes are associated with autoimmune cytopenias: a single-center study.

Xiao Z et al.

Blood Vessels, Thrombosis & Hemostasis, 2026

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1
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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."