Article
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
PloS one - 30 Mar 2011
Crockett David K, Piccolo Stephen R, Ridge Perry G, Margraf Rebecca L, Lyon Elaine, Williams Marc S, Mitchell Joyce A
Abstract excerpt
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. Currently, some 46 non-synonymous VUS entries exist in curated archives. In the absence of a gold standard method for...
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