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The prevalence of germline DICER1 pathogenic variation in cancer populations

BACKGROUND: The DICER1 syndrome is an autosomal dominant tumor‐predisposition disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer. Somatic missense variation in “hotspot” codons in the RNaseIIIb domain (E1705, D1709, G1809, D1810, E1813) is observed in DICER1‐associated t...

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Detalles Bibliográficos
Autores principales: Kim, Jung, Schultz, Kris Ann P., Hill, Dana Ashley, Stewart, Douglas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418698/
https://www.ncbi.nlm.nih.gov/pubmed/30672147
http://dx.doi.org/10.1002/mgg3.555