Full text in PMC (nucleotide) for Gene (Select 308751) - PMC

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Items: 3

Select item 42599701.

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie-Claire Gubler, Zelal Ekinci, Michel Tsimaratos, Brigitte Chabrol, Nathalie Boddaert, Alain Verloes, Arnaud Chevrollier, Naig Gueguen, Valérie Desquiret-Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoit Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac

Am J Hum Genet. 2014 Dec 4; 95(6): 637–648. doi: 10.1016/j.ajhg.2014.10.011

PMCID:: PMC4259970

Abstract Article PDF–3.3M

Select item 5402772.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405