Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.L157P
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STAR

NM_000349.3:p.L157P

Associated Papers

Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.

Kurt I et al.

Clinical Endocrinology, 2024

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

Phadte A et al.

Clinical Endocrinology, 2024

Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.

Seven Menevse T et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Steroidogenic acute regulatory protein in white sturgeon (Acipenser transmontanus): cDNA cloning, sites of expression and transcript abundance in corticosteroidogenic tissue after an acute stressor.

Kusakabe M et al.

General and Comparative Endocrinology, 2009

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.

Flück CE et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."