Article

Genotype-integrated single-cell transcriptome analysis of a myelodysplastic neoplasm case reveals the role of DDX41 p.R525H

2024-12-11

Abstract excerpt

<title>Abstract</title> <p>DEAD-box helicase 41 (<italic>DDX41</italic>) is a key gene in germline-predisposed myeloid neoplasms, where pathogenic germline variants often lead to disease after acquiring a somatic mutation in trans. We conducted single-cell RNA sequencing combined with genotyping of the p.R525 site in a myelodysplastic neoplasm (MDS) case with germline p.R339C and somatic p.R525H variants, which e...

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Literature Corpus work: 5ebd2c9d-5205-5c65-ab2e-b66a1e7fafc6
DOI: 10.21203/rs.3.rs-5490112/v1

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