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Article

Genomic insights into inherited bone marrow failure syndromes in a Korean population.

British journal of haematology - 1 Oct 2024

Lee Jong-Mi, Kim Hoon Seok, Yoo Jaeeun, Lee Jaewoong, Ahn Ari, Cho Hanwool, Han Eun Hee, Jung Jin, Yoo Jae Won, Kim Seongkoo, Lee Jae Wook, Cho Bin, Chung Nack-Gyun, Kim Myungshin, Kim Yonggoo

Abstract excerpt

Inherited bone marrow failure syndromes (IBMFS) pose significant diagnostic challenges due to overlapping symptoms and variable expressivity, despite evolving genomic insights. The study aimed to elucidate the genomic landscape among 130 Korean patients with IBMFS. We conducted targeted next-generation sequencing (NGS) and clinical exome sequencing (CES) across the cohort, complemented by whole genome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38735735
DOI: 10.1111/bjh.19509

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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