The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

Melissa A. Parisi, Craig L. Bennett, Melissa L. Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis W.W. Shaw, Ruth McDonald, Allison Eddy, Phillip F. Chance, Ian A. Glass

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209 Scopus citations

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Biochemistry, Genetics and Molecular Biology