UMD (Universal Mutation Database): 2005 update
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference42 articles.
1. Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense;Aartsma-Rus;Am J Hum Genet,2004
2. The Human Genome Project in retrospect;Abramowicz;Adv Genet,2003
3. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1;Ars;Hum Mol Genet,2000
4. 8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada;Auerbach;Hum Mutat,2000
5. Recode 2003;Baranov;Nucleic Acids Res,2003
Cited by 98 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. Factor VII deficiency in China: Phenotype, genotype and current status of management;British Journal of Haematology;2022-10-13
2. BRCA1/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: Looking for the hidden meaning;Critical Reviews in Oncology/Hematology;2022-04
3. Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy;Human Mutation;2022-03-07
4. Data sharing and gene variant databases;Clinical DNA Variant Interpretation;2021
5. Factor VII Deficiency Due to Compound Heterozygosity for the p.Leu13Pro Mutation and a Novel Mutation in the HNF4 Binding Region (−58G>C) in the <i>F7</i> Promoter;The Kurume Medical Journal;2020-09-30
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