Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.C224F
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STAR

NM_000349.3:p.C224F

Associated Papers

Novel STAR Gene Variant of Congenital Lipoid Adrenal Hyperplasia With Testicular Adrenal Rests.

Harinarayan CV et al.

Jcem Case Reports, 2024

Near-miss apparent SIDS from adrenal crisis.

Gassner HL et al.

The Journal of Pediatrics, 2004

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

Stocco DM

Molecular and Cellular Endocrinology, 2002

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.

Bose HS et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Bose HS et al.

The New England Journal of Medicine, 1996

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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."