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Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder

Telomere biology disorders (TBDs) are a spectrum of multisystem inherited disorders characterized by bone marrow failure, resulting from mutations in the genes encoding telomerase or other proteins involved in maintaining telomere length and integrity. Pathogenicity of variants in these genes can be...

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Detalles Bibliográficos
Autores principales:	Niaz, Aram, Truong, Jia, Manoleras, Annabel, Fox, Lucy C., Blombery, Piers, Vasireddy, Raja S., Pickett, Hilda A., Curtin, Julie A., Barbaro, Pasquale M., Rodgers, Jonathan, Roy, John, Riley, Lisa G., Holien, Jessica K., Cohen, Scott B., Bryan, Tracy M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society of Hematology 2022
Materias:	Hematopoiesis and Stem Cells
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631560/ https://www.ncbi.nlm.nih.gov/pubmed/35477117 http://dx.doi.org/10.1182/bloodadvances.2022007029

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