Reclassification of a frequent African‐origin variant from PMS2 to the pseudogene PMS2CL
Author:
Affiliation:
1. Lady Davis Institute, Segal Cancer Centre Jewish General Hospital Montréal Québec Canada
2. Department of Human Genetics McGill University Montréal Québec Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23978
Reference12 articles.
1. Worldwide burden of colorectal cancer: a review
2. FunctionalPMS2hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event
3. Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
4. Heterozygous Mutations in PMS2 Cause Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome)
Cited by 8 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. Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients;Familial Cancer;2024-06-20
2. Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?;Frontiers in Oncology;2024-06-18
3. Misclassification of a frequent loss of function variant fromPMS2CLpseudogene as aPMS2variant in Brazilian patients;2024-03-27
4. Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer;Frontiers in Oncology;2023-10-27
5. Province-Wide Ascertainment of Lynch Syndrome in Manitoba;Clinical Gastroenterology and Hepatology;2023-10
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