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Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

Although reported gene variants in the RET oncogene have been directly associated with multiple endocrine neoplasia type 2 and hereditary medullary thyroid carcinoma, other mutations are classified as variants of uncertain significance (VUS) until the associated clinical phenotype is made clear. Cur...

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Detalles Bibliográficos
Autores principales: Crockett, David K., Piccolo, Stephen R., Ridge, Perry G., Margraf, Rebecca L., Lyon, Elaine, Williams, Marc S., Mitchell, Joyce A.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068179/
https://www.ncbi.nlm.nih.gov/pubmed/21479187
http://dx.doi.org/10.1371/journal.pone.0018380