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Skup podataka sa Zenodo · Chang, Alexander

Ryanodine Receptor Type 2 Associated Catecholaminergic Polymorphic Ventricular Tachycardia Variants Dataset

Otvori na Zenodo
Licenca
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Formati
SQL, XLSX, GZ, PDF
Veličina
1,8 MB
Ažurirano
13. 1. 2026.

Opis

Location of RYR2 Associated CPVT Variants Dataset Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia caused by pathogenic RYR2 variants. CPVT is characterized by exercise/stress-induced syncope and cardiac arrest in the absence of resting ECG and structural cardiac abnormalities. Here, we present a database collected from 221 clinical papers, published from 2001-October 2020, about CPVT associated RYR2 variants. 1342 patients, both with and without CPVT, with RYR2 variants are in the database. There are a total of 964 CPVT patients or suspected CPVT patients in the database. The database includes information regarding genetic diagnosis, location of the RYR2 variant(s), clinical history and presentation, and treatment strategies for each patient. Patients will have a varying depth of information in each of the provided fields. Database website: https://cpvtdb.port5000.com/ Dataset Information This dataset includes: all data.xlsx Tabular version of the database Most relevant tables in the PostgreSQL database regarding patient sex, conditions, treatments, family history, and variant information were joined to create this database Views…

Opis sa Zenodo, skraćen.

Fajlovi (4)

  • SQL00_20241219_globals.sql516 B
  • XLSXall_data-0.3.0 copy.xlsx443 kB
  • GZ20241223-dd040736b518.sql.gz1,3 MB
  • PDFdatabase_tables.pdf101 kB

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