Condition: Pallor of optic disc
rs751163782
in
RAB28
gene and
Pallor of optic disc
PMID 25356532
2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
PMID 23746546
2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.