A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
Rap 鸟嘌呤核苷酸交换因子 5 (RAPGEF5) 中的一种无义变体与纯种马驹的家族性孤立性甲状旁腺功能减退症有关
期刊:PLoS Genetics
影响因子:
doi:10.1371/journal.pgen.1009028
Victor N Rivas, K Gary Magdesian, Sophia Fagan, Nathan M Slovis, Daniela Luethy, Laura H Javsicas, Brian G Caserto, Andrew D Miller, Anna R Dahlgren, Janel Peterson, Erin N Hales, Sichong Peng, Katherine D Watson, Mustafa K Khokha, Carrie J Finno
