Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.H618Y
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EZH2

NM_004456.5:p.H618Y

Associated Papers

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

Cyrus S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K et al.

American Journal of Medical Genetics. Part A, 2013

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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."