Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.L63delFs
Back to variants list

STAR

NM_000349.3:p.L63delFs

Associated Papers

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

Altinkilic EM et al.

The Journal of Endocrinology, 2024

Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.

Stocco DM

Molecular and Cellular Endocrinology, 2002

Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.

Stratakis CA et al.

Critical Reviews in Clinical Laboratory Sciences, 1999

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.

Nakae J et al.

Human Molecular Genetics, 1997

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."