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Telomere Biology Disorder Predisposition in Bone Marrow Failure and Clonal Hematopoiesis

2025-07-08

Abstract excerpt

Telomere biology disorders (TBDs), exemplified by dyskeratosis congenita (DC), are characterized by genetic defects in telomere maintenance genes, leading to telomere attrition and multi-organ manifestations including bone marrow failure (BMF) and increased malignancy risk. This study aimed to evaluate the prevalence and clinical impact of rare possibly significant variations (PSVs) in telomere-related genes among...

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Literature Corpus work
d354732b-1d1f-5fe5-b104-2f65d13a3064
DOI
10.1101/2025.07.08.25331123
Open publication

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