Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.Q258*
Back to variants list

NR5A1

NM_004959.5:p.Q258*

Associated Papers

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

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Disorders of Sex Development of Adrenal Origin.

Finkielstain GP et al.

Frontiers in Endocrinology, 2021

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

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Bose HS et al.

The New England Journal of Medicine, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."