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SAT508 Siblings With Heterozygous DICER1 c.322C>T, pGln108* Variant: A Novel Genetic Variant for DICER1 Syndrome
Disclosure: N.L. Yamashita: None. J. Austin: Consulting Fee; Self; Ascendis, Vertice. Research Investigator; Self; IBSA Pharmaceuticals. Background: Several genetic variants are implicated in DICER1 syndrome - a neoplasm predisposition syndrome with a spectrum of presentations with both benign and m...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555172/ http://dx.doi.org/10.1210/jendso/bvad114.1980 |