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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP11B2

Variant:p.T318_T319Splc

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CYP11B2

NM_000498.3:p.T318_T319Splc

hg38:chr8:142914263 C>T

Associated Papers

Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.

Cerame BI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 0

11154148 (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."