Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.R374Splc
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CYP11B1

NM_000497.4:p.R374Splc

Associated Papers

Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.

Liu H et al.

Endocrine, 2024

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.

Guzzetti C et al.

Hormone Research in Paediatrics, 2018

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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."