Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

The pathogenicity of previously published disease-associated genes and variants is sometimes questionable. Large-scale, population-based sequencing studies have uncovered numerous false assignments of pathogenicity. Misinterpretation of sequence variants may have serious implications for the patient...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Verhagen, Judith M. A., Veldman, Job H., van der Zwaag, Paul A., von der Thüsen, Jan H., Brosens, Erwin, Christiaans, Imke, Dooijes, Dennis, Helderman-van den Enden, Apollonia T. J. M., Lekanne Deprez, Ronald H., Michels, Michelle, van Mil, Anneke M., Oldenburg, Rogier A., van der Smagt, Jasper J., van den Wijngaard, Arthur, Wessels, Marja W., Hofstra, Robert M. W., van Slegtenhorst, Marjon A., Jongbloed, Jan D. H., van de Laar, Ingrid M. B. H.
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6189092/
https://ncbi.nlm.nih.gov/pubmed/29988065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0208-1
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