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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1292885263

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

About this item

Full title

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

Publisher

United States: Public Library of Science

Journal title

PloS one, 2011-03, Vol.6 (3), p.e18380-e18380

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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 i...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1292885263

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1292885263

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0018380

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