Condition: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
rs1567725425
in
GPR179
gene and
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
PMID 22325361
2012 Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
PMID 22325362
2012 GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.