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Updated: Jun 23, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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人类STAR变异的临床谱及其基因型-表型相关性

Emre Murat Altinkilic1,2, Philipp Augsburger1,2,3, Amit V Pandey1,2

  • 1Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

The Journal of endocrinology
|June 24, 2024
PubMed
概括

类固醇性急性调节蛋白 (STAR) 中的双变体会导致原发性上腺功能缺陷和性发育障碍. 由于STAR缺乏症会影响胆固醇的运输,破坏类固醇激素的产生.

关键词:
星星是什么意思?星星是什么意思性发育障碍 性发育障碍遗传变异是一种遗传变异.基因型表型相关性相关性原发性上腺功能衰竭类固醇性急性调节性蛋白质

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