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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? J Hum Genet. 2019 Jun; 64(6):561-572.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Child
Computer Simulation
Congenital Hypothyroidism
Craniofacial Abnormalities
Enhancer of Zeste Homolog 2 Protein
Female
Hand Deformities, Congenital
Histone-Lysine N-Methyltransferase
Humans
Male
Molecular Dynamics Simulation
Mutation Rate
Mutation, Missense
Polycomb Repressive Complex 2
Protein Conformation
WD40 Repeats
authors with profiles
Emil Georgiev Alexov