Condition: RETINITIS PIGMENTOSA 66
rs146150511 in
RBP3 gene and
RETINITIS PIGMENTOSA 66
PMID 19074801 2009 A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
PMID 23486466 2013 Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).