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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Bibliographic Details
Published in:N Engl J Med
Main Authors: Rehm, Heidi L., Berg, Jonathan S., Brooks, Lisa D., Bustamante, Carlos D., Evans, James P., Landrum, Melissa J., Ledbetter, David H., Maglott, Donna R., Martin, Christa Lese, Nussbaum, Robert L., Plon, Sharon E., Ramos, Erin M., Sherry, Stephen T., Watson, Michael S.
Format: Artigo
Language:Inglês
Published: 2015
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Article
Online Access: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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