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

SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.

Pitts HA et al.

International Journal of Molecular Sciences, 2023

37298647 (PubMed )
Supplement: ijms-24-09696-s001.zip › Manuscript_SPINK2_supplementary_tables.xlsx › Table_S14

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."