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Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2023-06-30 , DOI: 10.3343/alm.2023.43.6.638 Heerah Lee 1 , Jung Ae Lee 1 , Hyesu Lee 1 , Jee-Soo Lee 1 , Jung Min Ko 2, 3 , Man Jin Kim 2, 3 , Moon-Woo Seong 1, 4
中文翻译：
短读长下一代测序数据中假基因相关变异的变异等位基因频率可能会误导遗传诊断：以Shwachman-Diamond综合征为例。
更新日期：2023-07-01
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2023-06-30 , DOI: 10.3343/alm.2023.43.6.638 Heerah Lee 1 , Jung Ae Lee 1 , Hyesu Lee 1 , Jee-Soo Lee 1 , Jung Min Ko 2, 3 , Man Jin Kim 2, 3 , Moon-Woo Seong 1, 4
Affiliation
中文翻译：
短读长下一代测序数据中假基因相关变异的变异等位基因频率可能会误导遗传诊断：以Shwachman-Diamond综合征为例。
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