Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2354S
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KMT2D

NM_003482.4:p.P2354S

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

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

Block J et al.

The New England Journal of Medicine, 2023

37342957 (PubMed )
Supplement: nejmoa2210054_appendix.pdf

Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Mangolini A et al.

Cell Biology International, 2022

35347810 (PubMed )
Supplement: CBIN-46-1047-s001.xlsx › Mutations
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