Varaico: Literature-Extracted Genetic Variants

Gene:EED
Variant:p.R302S
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EED

NM_003797.5:p.R302S

Associated Papers

Functional analysis of human EED variants using Drosophila.

Cyrus SS et al.

Genetics, 2025

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

Goel H et al.

American Journal of Medical Genetics. Part A, 2024

The engagement of histone lysine methyltransferases with nucleosomes: structural basis, regulatory mechanisms, and therapeutic implications.

Li Y et al.

Protein & Cell, 2023

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).

Hetzelt KLML et al.

American Journal of Medical Genetics. Part A, 2022

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Spellicy CJ et al.

Journal of Human Genetics, 2019

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

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

Imagawa E et al.

Human Mutation, 2017

EED-associated overgrowth in a second male patient.

Cohen AS et al.

Journal of Human Genetics, 2016

A novel mutation in EED associated with overgrowth.

Cohen AS et al.

Journal of Human Genetics, 2015

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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."