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Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms

The risk of Hirschsprung disease (HSCR) is ∼15/100 000 live births per newborn but has been reported to show significant inter-individual variation from the effects of seven common susceptibility alleles at the RET, SEMA3 and NRG1 loci. We show, by analyses of these variants in 997 samples from 376...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Kapoor, Ashish, Jiang, Qian, Chatterjee, Sumantra, Chakraborty, Prakash, Sosa, Maria X., Berrios, Courtney, Chakravarti, Aravinda
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4406299/
https://ncbi.nlm.nih.gov/pubmed/25666438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv051
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