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Updated: Sep 19, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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一个新发现的ARMC5生殖系变体在初级双边的上腺过度增生使用整体出口序列和蛋白质预测分析

Y Zhang1,2, Y Tao1,3, Q Wu1,3

  • 1Department of Endocrine, Xuzhou Central Hospital, Xuzhou, China.

Acta endocrinologica (Bucharest, Romania : 2005)
|June 18, 2025
PubMed
概括

研究人员在一家患有原发性双边巨性上腺增生症 (PBMAH) 的家庭中发现了一种新的ARMC5生殖系变异. 这一发现有助于早期的PBMAH诊断和携带者癌症预防.

关键词:
在 ARMC5 中,ARMC5 是PBMAH 的使用方法.在WES WES中,您可以使用细菌系变体的细菌系变体蛋白质预测分析 预测分析

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

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Smooth Endoplasmic Reticulum01:21

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Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
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