Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.G221S
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STAR

NM_000349.3:p.G221S

Associated Papers

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

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

Lu W et al.

Frontiers in Endocrinology, 2022

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Buonocore F et al.

Journal of the Endocrine Society, 2021

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.

Bae H et al.

Annals of Pediatric Endocrinology & 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

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

[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

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

Flück CE et al.

Plos One, 2011

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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."