STUDY: Copy Number Variation in Congenital Kidney Malformations

Study Description

We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of... Show More

Study Accession Alternative Stable ID type
phs000565.v1.p1 dbGaP Case Set

Who controls access to this study

NIDDK Central Repository GWAS Data Access Committee
Access information:

Publications

23159250

Data provider(s)

  • Title Name Institute
    Principal Investigator Ali G. Gharavi, MD Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Co-Investigator Simone Sanna-Cherchi, MD Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Co-Investigator Gian Marco Ghiggeri, MD Department of Nephrology and Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy
    Funding Source 1R01DK080099 National Institutes of Health, Bethesda, MD, USA
    Funding Source GGP08050 Fondazione Telethon, Rome, Italy

Who archives the data?

The database of Genotypes and Phenotypes (dbGaP)