Associated Papers
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 2025
40137421 (PubMed )
Supplement: jpm-15-00105-s001.zip › Supplementary_Table_S3_-_Case_series_OK.pdf
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM3_ESM.xlsx › S6_CardiacG2P
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