Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.Q77*
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STAR

NM_000349.3:p.Q77*

Associated Papers

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

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

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

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

Zhang Y et al.

Endokrynologia Polska, 2024

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.

Duan Y et al.

Journal of Medical Genetics, 2023

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Bakkar AA et al.

Clinical Medicine Insights. Endocrinology and Diabetes, 2023

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Shiga N et al.

Human Genome Variation, 2022

36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2

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

Wang YJ et al.

World Journal of Clinical Cases, 2022

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

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

Lu W et al.

Frontiers in Endocrinology, 2022

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

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

[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].

Qiu WJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

[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."