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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 (2023)

Journal

ANNALS OF LABORATORY MEDICINE

Volume 43, Issue 6, Pages 638-641

Publisher

KOREAN SOC LABORATORY MEDICINE

DOI: 10.3343/alm.2023.43.6.638

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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

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ANNALS OF LABORATORY MEDICINE

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KOREAN SOC LABORATORY MEDICINE

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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

Journal

ANNALS OF LABORATORY MEDICINE

Publisher

KOREAN SOC LABORATORY MEDICINE

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