PMC Links for Nucleotide (Select 289666795) - PMC

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Items: 2

Select item 3850911.

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Edgar Otto, Julia Hoefele, Rainer Ruf, Adelheid M. Mueller, Karl S. Hiller, Matthias T. F. Wolf, Maria J. Schuermann, Achim Becker, Ralf Birkenhäger, Ralf Sudbrak, Hans C. Hennies, Peter Nürnberg, Friedhelm Hildebrandt

Am J Hum Genet. 2002 Nov; 71(5): 1161–1167. Published online 2002 Aug 29. doi: 10.1086/344395

Correction in:: Am J Hum Genet. 2002 Dec; 71(6): 1489.

PMCID:: PMC385091

Abstract Article PDF–649K

Select item 39600542.

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

María González-del Pozo, Cristina Méndez-Vidal, Javier Santoyo-Lopez, Alicia Vela-Boza, Nereida Bravo-Gil, Antonio Rueda, Luz García-Alonso, Carmen Vázquez-Marouschek, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

Mol Genet Genomic Med. 2014 Mar; 2(2): 124–133. Published online 2013 Dec 3. doi: 10.1002/mgg3.50