Lindstrand et al., 2014
- Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome.
American journal of human genetics
94:745-54
Full text @ Am. J. Hum. Genet.
| Marker Type | Symbol | Name |
|---|---|---|
| Gene | bbs1 | Bardet-Biedl syndrome 1 |
| Gene | bbs10 | Bardet-Biedl syndrome 10 |
| Gene | bbs2 | Bardet-Biedl syndrome 2 |
| Gene | bbs7 | Bardet-Biedl syndrome 7 |
| Gene | bbs9 | Bardet-Biedl syndrome 9 |
| Gene | nphp1 | nephronophthisis 1 |