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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP11B2

Variant:p.A199Splc

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CYP11B2

NM_000498.3:p.A199Splc

hg38:chr8:142915045 C>T

Associated Papers

Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.

Karlekar MP et al.

Clinical Endocrinology, 2021

33275286 (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."