Varaico: Literature-Extracted Genetic Variants

Gene:STARD3
Variant:p.R182L
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STARD3

NM_006804.4:p.R182L

Associated Papers

Intracellular cholesterol transport proteins: roles in health and disease.

Soffientini U et al.

Clinical Science (london, England : 1979), 2016

Hydrophobic core of the steroidogenic acute regulatory protein for cholesterol transport.

Bose HS et al.

Biochemistry, 2009

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

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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."