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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian...

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5938031

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

About this item

Full title

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

Publisher

London: Nature Publishing Group UK

Journal title

Human genome variation, 2018-04, Vol.5 (1), p.2-4, Article 2

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

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

Identifiers

Primary Identifiers

Record Identifier

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

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