Varaico: Literature-Extracted Genetic Variants

Gene:EGR2
Variant:p.P264L
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EGR2

NM_000399.5:p.P264L

Associated Papers

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

Lupo V et al.

European Journal of Neurology, 2020

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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."