Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.R272H
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STAR

NM_000349.3:p.R272H

Associated Papers

[Non-classic lipoid adrenal hyperplasia: clinical cases report].

Sichinava IG et al.

Problemy Endokrinologii, 2026

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Altinkilic EM et al.

The Journal of Endocrinology, 2024

STAR gene mutation in a patient with congenital lipoid adrenal hyperplasia.

Zhang Y et al.

Endokrynologia Polska, 2024

Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review.

Lu W et al.

Frontiers in Endocrinology, 2022

Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.

Kang E et al.

Molecular Medicine (cambridge, Mass.), 2017

Congenital lipoid adrenal hyperplasia.

Kim CJ

Annals of Pediatric Endocrinology & Metabolism, 2014

[Congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. A case report].

Szymczak J et al.

Endokrynologia Polska, 0

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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."