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A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families

Observations of inherited susceptibility to multiple myeloma have led to active research in defining predisposing genes to the disease. Here, we analysed 128 plasma cell dyscrasia patients’ germline whole‐exome sequencing data. Rare dominantly inherited pathogenic or likely pathogenic (P/LP) variant...

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Detalles Bibliográficos
Autores principales: Hakkarainen, Marja, Koski, Jessica R., Heckman, Caroline A., Anttila, Pekka, Silvennoinen, Raija, Lievonen, Juha, Kilpivaara, Outi, Wartiovaara‐Kautto, Ulla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9713058/
https://www.ncbi.nlm.nih.gov/pubmed/36467798
http://dx.doi.org/10.1002/jha2.557