HuGE Literature Finder
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Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczynski Maciej Robe |
Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. Mammalian genome : official journal of the International Mammalian Genome Society 2016 Mar . Forman Oliver P, Hitti Rebekkah J, Boursnell Mike, Miyadera Keiko, Sargan David, Mellersh Cathr |
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. European journal of human genetics : EJHG 2011 Apr 19 (4): 445-51. Fernández-Martínez Lorena, Letteboer Stef, Mardin Christian Y, Weisschuh Nicole, Gramer Eugen, Weber Bernhard Hf, Rautenstrauss Bernd, Ferreira Paulo A, Kruse Friedrich E, Reis André, Roepman Ronald, Pasutto Frances |
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PloS one 2011 6 (8): e23021. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
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