P657: Real-world evaluation of ExpansionHunter for detecting STR expansions in whole-exome sequencing data: Insights from a clinical diagnostic setting

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Bibliographic Details
Main Authors: Matheus Castro, João Paulo Kitajima, Fabíola Monteiro, David Schlesinger, Fernando Kok
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425010659
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