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Article

Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant.

BMC cardiovascular disorders - 27 Jul 2024

Cadena-Ullauri Santiago, Guevara-Ramírez Patricia, Ruiz-Pozo Viviana A, Tamayo-Trujillo Rafael, Paz-Cruz Elius, Simancas-Racines Daniel, Ibarra-Castillo Rita, Laso-Bayas José Luis, Zambrano Ana Karina

Abstract excerpt

BACKGROUND: Ion channels, vital transmembrane protein complexes, regulate ion movement within cells. Germline variants in channel-encoding genes lead to channelopathies. The sodium channels in cardiac cells exhibit a structure of an alpha subunit and one to two beta subunits. The alpha subunit, encoded by the SCN5A gene, comprises four domains. CASE PRESENTATION: A fifteen-year-old Ecuadorian female with atrial...

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Identifiers

PMID: 39068398
DOI: 10.1186/s12872-024-04049-w
PMCID: PMC11282620

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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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