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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, s...

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Source

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Identifiers

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

Genes

BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24667779-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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