HuGE Literature Finder
Records 1-2
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 |
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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 19, 2021
- Content source: