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

Detalles Bibliográficos
Autores principales: Lee, Heerah, Lee, Jung Ae, Lee, Hyesu, Lee, Jee-Soo, Ko, Jung Min, Kim, Man Jin, Seong, Moon-Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Laboratory Medicine 2023
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345175/
https://www.ncbi.nlm.nih.gov/pubmed/37387500
http://dx.doi.org/10.3343/alm.2023.43.6.638

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345175/
https://www.ncbi.nlm.nih.gov/pubmed/37387500
http://dx.doi.org/10.3343/alm.2023.43.6.638

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