Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.I150T
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EZH2

NM_004456.5:p.I150T

Associated Papers

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

Lee CL et al.

Children (basel, Switzerland), 2025

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Testa B et al.

Genes, 2023

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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."