Condition: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
rs121434304 in
GRM6 gene and
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
PMID 15781871 2005 Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
PMID 23714322 2013 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
PMID 17405131 2007 Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.