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Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations

Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients in the context of bone marrow (BM) histology and clinical phenotype. Whole-exome sequencing (WES) or targeted sequen...

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Detalles Bibliográficos
Autores principales:	Jeong, Dajeong, Kim, Sung-Min, Min, Byung Joo, Kim, Ju Han, Ju, Young Seok, Ahn, Yong-Oon, Yun, Jiwon, Lee, Young Eun, Kwon, Seok Ryun, Park, Jae Hyeon, Yoon, Jong Hyun, Lee, Dong Soon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9079068/ https://www.ncbi.nlm.nih.gov/pubmed/35525891 http://dx.doi.org/10.1038/s41598-022-11492-2

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