Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.H129R
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EZH2

NM_004456.5:p.H129R

Associated Papers

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

Deevy O et al.

Genes & Development, 2025

40846643 (PubMed )
Supplement: Supplemental_Data.docx

Functional analysis of human EED variants using Drosophila.

Cyrus SS et al.

Genetics, 2025

40539649 (PubMed )
Supplement: iyaf120_supplementary_data.zip › Supplementary_information_GENETICS-2024-307105.docx

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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