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A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis (AIS) is a complex inherited spinal deformity whose etiology has been elusive. While common genetic variants are associated with AIS, they explain only a small portion of disease risk. To explore the role of rare variants in AIS susceptibility, exome sequence data of...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Haller, Gabe, Alvarado, David, Mccall, Kevin, Yang, Ping, Cruchaga, Carlos, Harms, Matthew, Goate, Alison, Willing, Marcia, Morcuende, Jose A., Baschal, Erin, Miller, Nancy H., Wise, Carol, Dobbs, Matthew B., Gurnett, Christina A.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4690498/
https://ncbi.nlm.nih.gov/pubmed/26566670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv463
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