PMC Links for Nucleotide (Select 612149743) - PMC

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Items: 4

Select item 55443901.

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri Narayan Prasad, Chitra Prasad, Laurie Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George-Lucian Moldovan, Orly Elpeleg

Am J Hum Genet. 2017 Aug 3; 101(2): 267–273. Published online 2017 Aug 3. doi: 10.1016/j.ajhg.2017.07.002

PMCID:: PMC5544390

Abstract Article PDF–861K

Select item 36131772.

A non-catalytic role for inositol 1,3,4,5,6-pentakisphosphate 2-kinase in the synthesis of ribosomal RNA

Maria A. Brehm, Torsten Wundenberg, Jason Williams, Georg W. Mayr, Stephen B. Shears

J Cell Sci. 2013 Jan 15; 126(2): 437–444. doi: 10.1242/jcs.110031

PMCID:: PMC3613177

Abstract Article

Select item 35563593.

Bruce A. Knutson, Steven Hahn

Biochim Biophys Acta. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Biochim Biophys Acta. 2013 Mar; 1829(3-4): 265–273. Published online 2012 Aug 30. doi: 10.1016/j.bbagrm.2012.08.003