A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype

IMPORTANCE: Genetic disorders are historically defined through phenotype-first approaches. However, risk estimates derived from phenotype-linked ascertainment may overestimate severity and penetrance. Pathogenic variants in DICER1 are associated with increased risks of rare and common neoplasms and...

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Detalles Bibliográficos
Autores principales: Mirshahi, Uyenlinh L., Kim, Jung, Best, Ana F., Chen, Zongming E., Hu, Ying, Haley, Jeremy S., Golden, Alicia, Stahl, Richard, Manickam, Kandamurugu, Carr, Ann G., Harney, Laura A., Field, Amanda, Hatton, Jessica, Schultz, Kris Ann P., Bauer, Andrew J., Hill, D. Ashley, Rosenberg, Philip S., Murray, Michael F., Carey, David J., Stewart, Douglas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907958/
https://www.ncbi.nlm.nih.gov/pubmed/33630087
http://dx.doi.org/10.1001/jamanetworkopen.2021.0112

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