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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:N Engl J Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller