Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.R272C
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STAR

NM_000349.3:p.R272C

Associated Papers

Fertility in Non-Classic Lipoid CAH: A Case Report and Review of the Literature.

Altinkilic EM et al.

Hormone Research in Paediatrics, 2025

Rare forms of congenital adrenal hyperplasia.

Gurpinar Tosun B et al.

Clinical Endocrinology, 2024

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

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Novel STAR Gene Variant of Congenital Lipoid Adrenal Hyperplasia With Testicular Adrenal Rests.

Harinarayan CV et al.

Jcem Case Reports, 2024

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

Phadte A et al.

Clinical Endocrinology, 2024

Congenital lipoid adrenal hyperplasia with Graves' disease: A case report.

Wang YJ et al.

World Journal of Clinical Cases, 2022

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

Lu W et al.

Frontiers in Endocrinology, 2022

Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.

Li Z et al.

Bmc Endocrine Disorders, 2021

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Ishii T et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.

Ishii T et al.

Journal of the Endocrine Society, 2019

Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.

Hatabu N et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Genetic defects in pediatric-onset adrenal insufficiency in Japan.

Amano N et al.

European Journal of Endocrinology, 2017

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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."