A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.
Rivas VN, Magdesian KG, Fagan S, Slovis NM, Luethy D, Javsicas LH, Caserto BG, Miller AD, Dahlgren AR, Peterson J, Hales EN, Peng S, Watson KD, Khokha MK, Finno CJ.
Rivas VN, et al. Among authors: magdesian kg.
PLoS Genet. 2020 Sep 28;16(9):e1009028. doi: 10.1371/journal.pgen.1009028. eCollection 2020 Sep.
PLoS Genet. 2020.
PMID: 32986719
Free PMC article.