Varaico: Literature-Extracted Genetic Variants

Gene:EGR2
Variant:p.S197F
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EGR2

NM_000399.5:p.S197F

Associated Papers

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Lu YY et al.

Chinese Medical Journal, 2017

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 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."