Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.K248_G249Splc
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STAR

NM_000349.3:p.K248_G249Splc

Associated Papers

STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Bakkar AA et al.

Clinical Medicine Insights. Endocrinology and Diabetes, 2023

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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."