Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report

Next-generation sequencing (NGS), known as massively parallel sequencing, is transitioning from research tools to a clinical diagnostic methods. Whole-exome sequencing (WES), a specific applications of NGS, has emerged as a valuablefirst-line diagnostic tool for patients with rare diseases and shows...

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Bibliographic Details
Main Authors: Yao Liu, Hongjun Miao, Qin Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Pediatrics
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Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1572366/full
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