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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP11B2

Variant:p.A165T

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CYP11B2

NM_000498.3:p.A165T

hg38:chr8:142915148 C>T

Associated Papers

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.

Merakou C et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

33098647 (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."