Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S4251insFs
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KMT2D

NM_003482.4:p.S4251insFs

Associated Papers

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Lucca C et al.

Clinical Genetics, 2025

40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM9_ESM.xlsx › SuppTable6_mMIBC-Somatic_alt
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