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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SKIC2

Variant:p.D226V

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SKIC2

NM_006929.5:p.D226V

hg38:chr6:31961274 A>T

Associated Papers

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

Deevy O et al.

Genes & Development, 2025

40846643 (PubMed )

Supplement: Supplemental_Data.docx

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