相关实验视频

Updated: Jul 12, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K

基准分析AlphaMissense对囊性纤维化变种的病原性预测

Eli Fritz McDonald1,2, Kathryn E Oliver3,4, Jonathan P Schlebach5

  • 1Department of Chemistry, Vanderbilt University, Nashville, TN 37235, USA.

bioRxiv : the preprint server for biology
|October 24, 2023
PubMed
概括

AlphaMissense (AM) 在预测囊性纤维化 (CF) 误解变体方面表现不错,与CFTR通道功能良好相关,但与临床结果相比较差. 对于精确的治疗向,需要进一步开发.

更多相关视频

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

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

Published on: January 16, 2019

11.0K
In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

相关概念视频

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
256