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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR3C1

Variant:p.I747I

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NR3C1

NM_000176.3:p.I747I

hg38:chr5:143281982 A>G

Associated Papers

Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.

Al Argan R et al.

Endocrine Journal, 2018

30158362 (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."