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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:JAMA Netw Open
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Medical Association 2021
Θέματα:
Original Investigation
Διαθέσιμο Online: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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