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Article

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.

Journal of human genetics - 1 Feb 2013

Peixoto Ana, Pinheiro Manuela, Massena Lígia, Santos Catarina, Pinto Pedro, Rocha Patrícia, Pinto Carla, Teixeira Manuel R

Abstract excerpt

To determine whether a large genomic rearrangement is actually novel and to gain insight about the mutational mechanism responsible for its occurrence, molecular characterization with breakpoint identification is mandatory. We here report the characterization of two large deletions involving the BRCA1 gene. The first rearrangement harbored a 89,664-bp deletion comprising exon 7 of the BRCA1 gene to exon 11 of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, BRCA1

Share to Polymorphism, Single Nucleotide

Share to Recombination, Genetic

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Source

Identifiers

PMID: 23223007
DOI: 10.1038/jhg.2012.137

Genes

BRCA1
NBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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