Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease - Lee, Winston; Zernant, Jana; Nagasaki, Takayuki; Molday, Laurie L; Su, Pei-Yin; Fishman, Gerald A; Tsang, Stephen H; Molday, Robert S; Allikmets, Rando (Human molecular genetics, 2021)
Keywords: Alleles; ATP-Binding Cassette Transporters - genetics; Gene Frequency; Humans; Mutation; Penetrance; Phenotype; Stargardt Disease - genetics