Varaico: Literature-Extracted Genetic Variants

Gene:EED
Variant:p.D303H
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EED

NM_003797.5:p.D303H

Associated Papers

EED related overgrowth: First report of multiple members in a single family.

Goel H et al.

American Journal of Medical Genetics. Part A, 2024

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Griffiths S et al.

American Journal of Medical Genetics. Part A, 2019

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Smigiel R et al.

Journal of Human Genetics, 2018

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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."