Condition: Usher syndrome, type 2C
rs121909762 in
ADGRV1 gene and
Usher syndrome, type 2C
PMID 14740321 2004 Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
PMID 26164827 2015 Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
PMID 22147658 2012 Non-USH2A mutations in USH2 patients.
PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.