A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

被引：0
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作者：
Ye Cao
Mari J. Tokita
Edward S. Chen
Rajarshi Ghosh
Tiansheng Chen
Yanming Feng
Elizabeth Gorman
Federica Gibellini
Patricia A. Ward
Alicia Braxton
Xia Wang
Linyan Meng
Rui Xiao
Weimin Bi
Fan Xia
Christine M. Eng
Yaping Yang
Tomasz Gambin
Chad Shaw
Pengfei Liu
Pawel Stankiewicz
机构：
[1] Baylor College of Medicine,Department of Molecular and Human Genetics
[2] Baylor Genetics,Department of Obstetrics and Gynecology
[3] The Chinese University of Hong Kong,Department of Medical Genetics
[4] Institute of Mother and Child,Institute of Computer Science
[5] Warsaw University of Technology,Department of Statistics
[6] Rice University,undefined
来源：
Genome Medicine | / 11卷
关键词：
AOH; CpG site; Somatic mosaicism; Genotype-phenotype correlation; PI3K-AKT-mTOR pathway; RASopathies; UPD;
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