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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR2C2

Variant:p.E70Q

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NR2C2

NM_001291694.2:p.E70Q

hg38:chr3:15013724 G>C

Associated Papers

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM et al.

American Journal of Medical Genetics. Part A, 2017

28498505 (PubMed )

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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."