Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.L174*
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EZH2

NM_004456.5:p.L174*

Associated Papers

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

36833222 (PubMed )
Supplement: genes-14-00295-s001.zip › genes-2134420-supplementary.pdf
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