Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncerta...
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance
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Publisher
England: eLife Science Publications, Ltd
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Language
English
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Publisher
England: eLife Science Publications, Ltd
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Contents
Pathogenic germline
CDKN2A
variants are associated with an increased risk of pancreatic ductal adenocarcinoma (PDAC).
CDKN2A
variants of uncertain significance (VUSs) are reported in up to 4.3% of patients with PDAC and result in significant uncertainty for patients and their family members as an unknown fraction are functionally delete...
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Full title
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance
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TN_cdi_doaj_primary_oai_doaj_org_article_9d870a3f89c84fea8ab4363964ed5f55
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9d870a3f89c84fea8ab4363964ed5f55
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.71137
