P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results

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Main Authors: Kexin Xu, Guozhuang Li, Sen Zhao, Terry Zhang, Nan Wu
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425003498
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author Kexin Xu
Guozhuang Li
Sen Zhao
Terry Zhang
Nan Wu
author_facet Kexin Xu
Guozhuang Li
Sen Zhao
Terry Zhang
Nan Wu
author_sort Kexin Xu
collection DOAJ
format Article
id doaj-art-71de3ad09cc34d0c8f1d55af4f901776
institution OA Journals
issn 2949-7744
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj-art-71de3ad09cc34d0c8f1d55af4f9017762025-08-20T02:18:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310231010.1016/j.gimo.2025.102310P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive resultsKexin Xu0Guozhuang Li1Sen Zhao2Terry Zhang3Nan Wu4Peking Union Medical College HospitalPeking Union Medical College HospitalBaylor College of Medicine Department of Molecular and Human GeneticsPeking Union Medical College HospitalPeking Union Medical College Hospitalhttp://www.sciencedirect.com/science/article/pii/S2949774425003498
spellingShingle Kexin Xu
Guozhuang Li
Sen Zhao
Terry Zhang
Nan Wu
P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results
Genetics in Medicine Open
title P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results
title_full P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results
title_fullStr P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results
title_full_unstemmed P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results
title_short P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results
title_sort p345 nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative inconclusive or positive results
url http://www.sciencedirect.com/science/article/pii/S2949774425003498
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AT guozhuangli p345ninecategoriesofpitfallsininitialgenetictestingforraredisordersreportinginappropriatenegativeinconclusiveorpositiveresults
AT senzhao p345ninecategoriesofpitfallsininitialgenetictestingforraredisordersreportinginappropriatenegativeinconclusiveorpositiveresults
AT terryzhang p345ninecategoriesofpitfallsininitialgenetictestingforraredisordersreportinginappropriatenegativeinconclusiveorpositiveresults
AT nanwu p345ninecategoriesofpitfallsininitialgenetictestingforraredisordersreportinginappropriatenegativeinconclusiveorpositiveresults