Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.D302fs
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CYP11B1

NM_000497.4:p.D302fs

Associated Papers

[Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].

Yu YY et al.

Zhonghua Yi Xue Za Zhi, 2024

Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.

Zhang R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

[Clinical, genetic, and pathological analysis in 165 children with disorders of sex development].

Cao YY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023

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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."