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Titel:

It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.

Dokumenttyp:
Article; Journal Article
Autor(en):
Westphal, Dominik Sebastian; Pollmann, Kathrin; Marschall, Christoph; Wacker-Gussmann, Annette; Oberhoffer-Fritz, Renate; Laugwitz, Karl-Ludwig; Ewert, Peter; Wolf, Cordula Maria
Abstract:
(1) Background: In cardiomyopathies, identification of genetic variants is important for the correct diagnosis and impacts family cascade screening. A classification system was published by the American College of Medical Genetics and Genomics (ACMG) in 2015 to standardize variants' classification. The aim of the study was to determine the rate of reclassification of previously identified variants in patients with childhood-onset cardiomyopathies. (2) Methods: Medical records of patients and the...     »
Zeitschriftentitel:
J Cardiovasc Dev Dis
Jahr:
2022
Band / Volume:
9
Heft / Issue:
2
Volltext / DOI:
doi:10.3390/jcdd9020041
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35200695
TUM Einrichtung:
Institut für Humangenetik; Klinik für Kinderkardiologie und angeborene Herzfehler (Prof. Ewert); Klinik und Poliklinik für Innere Medizin I, Kardiologie
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