Bardet-Biedl Syndrome 2 (BBS2-PRA)
| Acronym: | BBS2 |
| Gene: | BBS2 |
| Mutation: | c.1222G>C |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Acronym: | BBS2 |
| Gene: | BBS2 |
| Mutation: | c.1222G>C |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |