Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian...
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
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Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Extensive molecular screening of the
BRCA1/2
(
BRCA)
genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel
BRCA1
synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. W...
Alternative Titles
Full title
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5938031
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5938031
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-018-0003-0