Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome

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Bibliographic Details
Published inAnnals of laboratory medicine Vol. 43; no. 6; pp. 638 - 641
Main Authors Lee, Heerah, Lee, Jung Ae, Lee, Hyesu, Lee, Jee-Soo, Ko, Jung Min, Kim, Man Jin, Seong, Moon-Woo
Format Report
LanguageEnglish
Published 01.11.2023
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ISSN:2234-3814
DOI:10.3343/alm.2023.43.6.638