WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease
Author:
Affiliation:
1. Istituto Giannina Gaslini; Genova Italy
2. DINOGMI; Università degli Studi di Genova; Genova Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference10 articles.
1. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology;Tesson;Hum Genet,2015
2. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3;Cingolani;Fly (Austin),2012
3. A general framework for estimating the relative pathogenicity of human genetic variants;Kircher;Nat Genet,2014
4. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data;Köhler;Nucleic Acids Res,2014
5. Improved exome prioritization of disease genes through cross-species phenotype comparison;Robinson;Genome Res,2014
Cited by 17 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. TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine;American Journal of Medical Genetics Part A;2024-03-04
2. Spatial proteomics reveals secretory pathway disturbances caused by neuropathy-associated TECPR2;Nature Communications;2023-02-16
3. A genetic correlation and bivariate genome-wide association study of grip strength and depression;PLOS ONE;2022-12-15
4. Genetic pain loss disorders;Nature Reviews Disease Primers;2022-06-16
5. Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report;BMC Neurology;2022-02-07
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