bEMS223, a modified BAC from the RPCI-11 library containing the human NR2E1 gene with a single-base pair candidate regulatory variant, a C to A at position -1726 was inserted into the Hprt1 locus. This newly modified BAC is termed bEMS115. (J:267111)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count