Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.L53_Q54insT
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CYP11B1

NM_000497.4:p.L53_Q54insT

Associated Papers

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.

Fylaktou I et al.

Hormones (athens, Greece), 2022

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review.

Wang D et al.

Journal of Ovarian Research, 2018

A high rate of novel CYP11B1 mutations in Saudi Arabia.

Alzahrani AS et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

Divergent gender identity in three siblings with 46XX karyotype and severely virilizing congenital adrenal hyperplasia caused by a novel CYP11B1 mutation.

Bin-Abbas B et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2014

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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."