Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.L178Q
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STAR

NM_000349.3:p.L178Q

Associated Papers

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

Koganti PP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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

Koganti PP et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review.

Lu W et al.

Frontiers in Endocrinology, 2022

STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency.

Luo Y et al.

Molecular Medicine Reports, 2020

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