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Article

Intronic variants of SLC26A4 gene enhance splicing efficiency in hybrid minigene assay.

Gene - 15 Jul 2017

Kallel-Bouattour Rihab, Belguith-Maalej Salima, Zouari-Bradai Emna, Mnif Mouna, Abid Mohamed, Hadj Kacem Hassen

Abstract excerpt

The SLC26A4 genomic sequence screening in autoimmune thyroid diseases (AITD) revealed different variants types with possible pathogenic effects. Although intronic variants may have more detrimental effects than those coding, they are poorly explored. Thus, in a first assessment, our bioinformatics analysis of intronic variants predicted a pathogenic effect of c.1002-9A>C, c.1545-5T>G and c.1544+9C>T variants....

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Identifiers

PMID: 28389359
DOI: 10.1016/j.gene.2017.03.043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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