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"Bardet-Biedl" syndrome 17
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- ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17. Citation on PubMed or Free article on PubMed ...
- ... chaperonins in human disease. Trends Genet. 2001 Sep;17(9):528-35. doi: ... and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun;110(6): ...