Varaico: Literature-Extracted Genetic Variants

Gene:EGR2
Variant:p.E412G
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EGR2

NM_000399.5:p.E412G

Associated Papers

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

Chrysostomaki M et al.

Genes, 2026

Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.

Cavalcanti EBU et al.

Arquivos De Neuro-psiquiatria, 2025

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Grosz BR et al.

Scientific Reports, 2019

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

Tozza S et al.

Journal of the Peripheral Nervous System : Jpns, 2019

EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia.

Young E et al.

Leukemia, 2017

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

Sevilla T et al.

European Journal of Neurology, 2015

Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.

Safka Brožková D et al.

Neuromuscular Disorders : Nmd, 2012

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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."