Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia
Author:
Funder
Australian and New Zealand College of Anaesthetists
Publisher
Elsevier BV
Subject
Anesthesiology and Pain Medicine
Link
http://academic.oup.com/bja/article-pdf/117/1/124/17425666/aew065.pdf
Reference24 articles.
1. European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility;Hopkins;Br J Anaesth,2015
2. Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy;Kraeva;Neuromuscul Disord,2015
3. Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness;Fiszer;Anesthesiology,2015
4. Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families;Kim;Anesthesiology,2013
5. Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene;Crockett;PLoS One,2011
Cited by 32 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients;Italian Journal of Pediatrics;2023-08-02
2. Putative malignant hyperthermia mutation CaV1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance;Journal of Biological Chemistry;2023-08
3. In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes;Proceedings of the National Academy of Sciences;2023-07-17
4. Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations;Frontiers in Pharmacology;2023-03-20
5. Computational approaches for predicting variant impact: An overview from resources, principles to applications;Frontiers in Genetics;2022-09-29
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3