Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.Y133H
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EZH2

NM_004456.5:p.Y133H

Associated Papers

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Deevy O et al.

Genes & Development, 2025

40846643 (PubMed )
Supplement: Supplemental_Data.docx

cfDNA Chimerism and Somatic Mutation Testing in Early Prediction of Relapse After Allogeneic Stem Cell Transplantation for Myeloid Malignancies.

Rowley SD et al.

Cancers, 2025

40002220 (PubMed )
Supplement: cancers-17-00625-s001.zip › cancers-3405985-supplementary.pdf

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s5.xlsx › TP_Mutations
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