PMC Links for Gene (Select 680102) - PMC - NCBI

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Items: 3

Select item 41214781.

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Joe Rainger, Davut Pehlivan, Stefan Johansson, Hemant Bengani, Luis Sanchez-Pulido, Kathleen A. Williamson, Mehmet Ture, Heather Barker, Karen Rosendahl, Jürgen Spranger, Denise Horn, Alison Meynert, James A.B. Floyd, Trine Prescott, Carl A. Anderson, Jacqueline K. Rainger, Ender Karaca, Claudia Gonzaga-Jauregui, Shalini Jhangiani, Donna M. Muzny, Anne Seawright, Dinesh C. Soares, Mira Kharbanda, Victoria Murday, Andrew Finch, UK10K, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Gibbs, Veronica van Heyningen, Martin S. Taylor, Tahsin Yakut, Per M. Knappskog, Matthew E. Hurles, Chris P. Ponting, James R. Lupski, Gunnar Houge, David R. FitzPatrick

Am J Hum Genet. 2014 Jun 5; 94(6): 915–923. doi: 10.1016/j.ajhg.2014.05.005

PMCID:: PMC4121478

Abstract Article PDF–1.5M

Select item 43421662.

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Brett Deml, Ariana Kariminejad, Razieh H. R. Borujerdi, Sanaa Muheisen, Linda M. Reis, Elena V. Semina

PLoS Genet. 2015 Feb; 11(2): e1005002. Published online 2015 Feb 26. doi: 10.1371/journal.pgen.1005002

PMCID:: PMC4342166

Abstract Article PDF–16M

Select item 38110223.

Isolation of Mammalian 26S Proteasomes and p97/VCP Complexes Using the Ubiquitin-like Domain from HHR23B Reveals Novel Proteasome-Associated Proteins

Henrike C. Besche, Wilhelm Haas, Steven P. Gygi, Alfred L. Goldberg

Biochemistry. Author manuscript; available in PMC 2013 Oct 29.

Published in final edited form as: Biochemistry. 2009 Mar 24; 48(11): 10.1021/bi802198q. doi: 10.1021/bi802198q

PMCID:: PMC3811022

Abstract Article PDF–3.7M

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