Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.R182C
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STAR

NM_000349.3:p.R182C

Associated Papers

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia.

Alabduljabbar A et al.

Case Reports in Endocrinology, 2026

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Zhang L et al.

Genome Medicine, 2025

STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Phadte A et al.

Clinical Endocrinology, 2024

Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.

Hasenmajer V et al.

Reviews in Endocrine & Metabolic Disorders, 2023

Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.

Nagaraja MR et al.

Systems Biology in Reproductive Medicine, 2019

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.

Zhao X et al.

Bmc Endocrine Disorders, 2018

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

[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].

Xie T et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

Congenital lipoid adrenal hyperplasia.

Kim CJ

Annals of Pediatric Endocrinology & Metabolism, 2014

p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia.

Park HW et al.

Annals of Pediatric Endocrinology & Metabolism, 2013

A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia.

Ishizu K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2008

Phenotypic features of 46, XX females with StAR protein mutations.

Bhangoo A et al.

Pediatric Endocrinology Reviews : Per, 2007

Phenotypic features associated with mutations in steroidogenic acute regulatory protein.

Bhangoo A et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."