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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EGR2

Variant:p.S197_S198insFs

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EGR2

NM_000399.5:p.S197_S198insFs

hg38:chr10:62814045 G>GA

Associated Papers

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Tomaselli PJ et al.

Neurology, 2017

28283593 (PubMed )

Supplement: supp_WNL.0000000000003819_Table_e-2.pdf

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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."