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Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families

Significant resources have been invested in sequencing studies to investigate the role of rare variants in complex disease etiology. However, the diagnostic interpretation of individual rare variants remains a major challenge, and may require accurate variant functional classification and the collec...

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Detalles Bibliográficos
Autores principales: Rees, Matthew G., Raimondo, Anne, Wang, Jian, Ban, Matthew R., Davis, Mindy I., Barrett, Amy, Ranft, Jessica, Jagdhuhn, David, Waterstradt, Rica, Baltrusch, Simone, Simeonov, Anton, Collins, Francis S., Hegele, Robert A., Gloyn, Anna L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168830/
https://www.ncbi.nlm.nih.gov/pubmed/24879641
http://dx.doi.org/10.1093/hmg/ddu269