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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Dades bibliogràfiques
Publicat a:JAMA Netw Open
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: American Medical Association 2021
Matèries:
Original Investigation
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7907958/
https://ncbi.nlm.nih.gov/pubmed/33630087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2021.0112
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