Germline SAMD9L truncation variants trigger global translational repression

SAMD9L is an interferon-induced tumor suppressor implicated in a spectrum of multisystem disorders, including risk for myeloid malignancies and immune deficiency. We identified a heterozygous de novo frameshift variant in SAMD9L in an infant with B cell aplasia and clinical autoinflammatory features...

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Detalles Bibliográficos
Autores principales: Allenspach, Eric J., Soveg, Frank, Finn, Laura S., So, Lomon, Gorman, Jacquelyn A., Rosen, Aaron B.I., Skoda-Smith, Suzanne, Wheeler, Marsha M., Barrow, Kaitlyn A., Rich, Lucille M., Debley, Jason S., Bamshad, Michael J., Nickerson, Deborah A., Savan, Ram, Torgerson, Troy R., Rawlings, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2021
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970252/
https://www.ncbi.nlm.nih.gov/pubmed/33724365
http://dx.doi.org/10.1084/jem.20201195

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