Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies
The identification of molecular anomalies in patients with inherited arrhythmias or cardiomyopathies is a <em>multi challenge</em> due to: i) the number of genes involved; ii) the number of polymorphisms and the fact that most mutations are private; and iii) the variable degree of penetr...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2012-06-01
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| Series: | Cardiogenetics |
| Subjects: | |
| Online Access: | http://www.pagepressjournals.org/index.php/cardiogen/article/view/423 |