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Article

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

BMC cardiovascular disorders - 27 Jul 2024

Martin Sarah, Jenewein Tina, Geisen Christof, Scheiper-Welling Stefanie, Kauferstein Silke

Abstract excerpt

BACKGROUND: Genetic diagnostics support the diagnosis of hereditary arrhythmogenic diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the need for regular reassessment. Our study aims to reanalyse rare variants in different genes in order to decrease VUS diagnoses and thus improve risk stratification and personalized treatment for patients with arrhythmogenic disorders....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39068400
DOI: 10.1186/s12872-024-04065-w
PMCID: PMC11282671

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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