Varaico: Literature-Extracted Genetic Variants

Gene:EGR2
Variant:p.D411G
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EGR2

NM_000399.5:p.D411G

Associated Papers

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

Chrysostomaki M et al.

Genes, 2026

tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model.

Cark O et al.

Molecular Neurobiology, 2025

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Echaniz-Laguna A et al.

Journal of the Peripheral Nervous System : Jpns, 2023

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

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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."