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PubMed (cited) for id: 610162
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Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
Hum Genet. 2013 Jan;132(1):91-105. doi: 10.1007/s00439-012-1228-5. Epub 2012 Sep 27.
Hum Genet. 2013.
PMID: 23015189
Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N.
Badano JL, et al.
Nature. 2006 Jan 19;439(7074):326-30. doi: 10.1038/nature04370. Epub 2005 Dec 4.
Nature. 2006.
PMID: 16327777
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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N.
Beales PL, et al.
Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3.
Am J Hum Genet. 2003.
PMID: 12677556
Free PMC article.
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