PMC Links for Nucleotide (Select 1676318359) - PMC - NCBI

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Items: 3

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 65549672.

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

BMC Med Genet. 2019; 20: 101. Published online 2019 Jun 7. doi: 10.1186/s12881-019-0803-1

PMCID:: PMC6554967

Abstract Article PDF–2.7M

Select item 44614833.

The biological functions of Naa10 — From amino-terminal acetylation to human disease

Max J. Dörfel, Gholson J. Lyon

Gene. Author manuscript; available in PMC 2016 Aug 10.

Published in final edited form as: Gene. 2015 Aug 10; 567(2): 103–131. Published online 2015 May 16. doi: 10.1016/j.gene.2015.04.085

PMCID:: PMC4461483

Abstract Article PDF–1.1M

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