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Article

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

Journal of medical genetics - 1 Oct 2012

Gaildrat Pascaline, Krieger Sophie, Di Giacomo Daniela, Abdat Julie, Révillion Françoise, Caputo Sandrine, Vaur Dominique, Jamard Estelle, Bohers Elodie, Ledemeney Danielle, Peyrat Jean-Philippe, Houdayer Claude, Rouleau Etienne, Lidereau Rosette, Frébourg Thierry, Hardouin Agnès, Tosi Mario, Martins Alexandra

Abstract excerpt

BACKGROUND: Exonic variants of unknown biological significance (VUS) identified in patients can affect mRNA splicing, either by changing 5' or 3' splice sites or by modifying splicing regulatory elements. Bioinformatic predictions of these elements are still inaccurate and only few such elements...

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Source

Identifiers

PMID: 22962691
DOI: 10.1136/jmedgenet-2012-100965

Genes

BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22962691-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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