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