Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
Anna Lindstrand(Karolinska University Hospital), Nicholas Katsanis(Io Therapeutics (United States)), Subhadra Ramanathan(Loma Linda University), Craig W. Zuppan(Loma Linda University Medical Center), Davut Pehli̇van(Baylor College of Medicine), Jason R. Willer(Duke University), Robin D. Clark(Loma Linda University Children's Hospital), Eyal Banin(Hebrew University of Jerusalem), Pengfei Liu(Jichi Medical University), Richard A. Gibbs(Baylor College of Medicine), Aniko Sabo(Baylor College of Medicine), Claudia M.B. Carvalho(Pacific Northwest Diabetes Research Institute), Richard A. Lewis(Wayne State University), I-Chun Tsai(Duke Medical Center), James R. Lupski(Baylor College of Medicine), Donna M. Muzny(Baylor College of Medicine), Erica E. Davis(Northwestern University)
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