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

Scientific reports - 7 May 2022

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

Abstract excerpt

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 sequencing was performed on the BM or peripheral blood specimens of 16 patients diagnosed with CN based on BM exam from...

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Identifiers

PMID: 35525891
DOI: 10.1038/s41598-022-11492-2
PMCID: PMC9079068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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