Article
Study of consanguineous populations can improve the annotation of SNP databases.
European journal of medical genetics - 1 Jan 2000
Shamseldin Hanan E, Al-Dosari Mohammed, Al-Jbali Latifa, Rahbeeni Zuhair, Qari Alya, Hashem Mais, Alkuraya Fowzan S
Abstract excerpt
Our view of SNPs has evolved significantly from harmless mutational events that accumulated through the history of human race to important players in human health and disease. As a result, determining the pathologic vs. benign nature of SNPs on pure statistical basis is now viewed as too simplistic. Here, we show that two previously reported SNPs in COL6A2 and AGL represent disease-causing mutation for Ullrich...
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