PMC Links for Nucleotide (Select 1519242929) - PMC - NCBI

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Items: 3

Select item 58147341.

A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function

Vincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A. Botia, Mina Ryten, Jana Vandrovcova, Oscar D. Bello, Conceicao Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden

Hum Mutat. 2018 Feb; 39(2): 187–192. Published online 2017 Nov 27. doi: 10.1002/humu.23368

PMCID:: PMC5814734

Abstract Article PDF–763K

Select item 52206412.

DDX59 promotes DNA replication in lung adenocarcinoma

Jin You, Xingshun Wang, Jiuling Wang, Baolei Yuan, Yandong Zhang

Cell Death Discov. 2017; 3: 16095. Published online 2017 Jan 9. doi: 10.1038/cddiscovery.2016.95

PMCID:: PMC5220641

Abstract Article PDF–5.0M

Select item 37699303.

Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

Hanan E. Shamseldin, Anna Rajab, Amal Alhashem, Ranad Shaheen, Tarfa Al-Shidi, Rana Alamro, Salma Al Harassi, Fowzan S. Alkuraya

Am J Hum Genet. 2013 Sep 5; 93(3): 555–560. doi: 10.1016/j.ajhg.2013.07.012

PMCID:: PMC3769930

Abstract Article PDF–1.3M

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