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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2D

Variant:p.R2248G

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KMT2D

NM_003482.4:p.R2248G

hg38:chr12:49041028 G>C

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

41438733 (PubMed )

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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."