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Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise

PURPOSE OF REVIEW: In this review, we summarize the basic principles governing rare variant interpretation in the heritable cardiac arrhythmia syndromes, focusing on recent advances that have led to disease-specific approaches to the interpretation of positive genetic testing results. RECENT FINDING...

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Hlavní autoři: Giudicessi, John R., Ackerman, Michael J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3705648/
https://ncbi.nlm.nih.gov/pubmed/23128497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/HCO.0b013e32835b0a41
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