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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated func...

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated func...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_decf3abb40d44c9c8d643204604e436b

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

About this item

Full title

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2022-09, Vol.12 (1), p.16203-16203, Article 16203

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

BRCA1
(Breast Cancer 1, early onset) is linked to breast and ovarian cancer predisposition. Still, the risks conferred by a significant portion of
BRCA1
variants identified in the population remains unknown. Most of these variants of uncertain significance are missense alterations. However, the functional implications of small in-frame del...

Alternative Titles

Full title

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_decf3abb40d44c9c8d643204604e436b

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_decf3abb40d44c9c8d643204604e436b

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-022-20500-4

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