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ClinGen — The Clinical Genome Resource
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sud...
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| Publié dans: | N Engl J Med |
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| Auteurs principaux: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4474187/ https://ncbi.nlm.nih.gov/pubmed/26014595 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMsr1406261 |
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