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Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype
Whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. Though most studies are performed in order to establish diagnoses in individuals with rare and clinically unrecognizable disorders, due to the constantly decreasing costs and commercial availabilit...
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| Publicat a: | Genet Res (Camb) |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cambridge University Press
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6865166/ https://ncbi.nlm.nih.gov/pubmed/27173948 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672316000045 |
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