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Article

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

European journal of human genetics : EJHG - 1 Dec 2014

Steffensen Ane Y, Dandanell Mette, Jønson Lars, Ejlertsen Bent, Gerdes Anne-Marie, Nielsen Finn C, Hansen Thomas vO

Abstract excerpt

Mutational screening of the breast cancer susceptibility gene BRCA1 leads to the identification of numerous pathogenic variants such as frameshift and nonsense variants, as well as large genomic rearrangements. The screening moreover identifies a large number of variants, for example, missense, silent, and intron variants, which are classified as variants of unknown clinical significance owing to the lack of...

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Identifiers

PMID: 24667779
DOI: 10.1038/ejhg.2014.40
PMCID: PMC4231409

Genes

BRCA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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