Varaico: Literature-Extracted Genetic Variants

Gene:EGR2
Variant:p.R409Q
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EGR2

NM_000399.5:p.R409Q

Associated Papers

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.

Argente-Escrig H et al.

Annals of Clinical and Translational Neurology, 2021

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

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Berciano J et al.

Journal of Neurology, 2017

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

Sevilla T et al.

European Journal of Neurology, 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."