PMC Links for Gene (Select 304318) - PMC

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Items: 3

Select item 55671511.

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B Haack, Elisabeth Graf, Tim M Strom, Thomas Meitinger, Wasim Ahmad

Eur J Hum Genet. 2017 Aug; 25(8): 960–965. Published online 2017 May 10. doi: 10.1038/ejhg.2017.83

PMCID:: PMC5567151

Abstract Article PDF–1.7M

Select item 40270422.

EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia

Ganesh V. Pusapati, Casey E Hughes, Karolin V. Dorn, Dapeng Zhang, Priscilla Sugianto, L. Aravind, Rajat Rohatgi

Dev Cell. Author manuscript; available in PMC 2015 Mar 10.

Published in final edited form as: Dev Cell. 2014 Mar 10; 28(5): 483–496. Published online 2014 Feb 27. doi: 10.1016/j.devcel.2014.01.021

PMCID:: PMC4027042

Abstract Article PDF–3.9M

Select item 27788443.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016