PMC Links for Gene (Select 100362005) - PMC - NCBI

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Items: 3

Select item 35918541.

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

Naiara Akizu, Nuri M. Shembesh, Tawfeg Ben-Omran, Laila Bastaki, Asma Al-Tawari, Maha S. Zaki, Roshan Koul, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Gilberto da Gente, Jiang Li, Matthew A. Deardorff, Laura K. Conlin, Margaret A. Horton, Elaine H. Zackai, Elliott H. Sherr, Joseph G. Gleeson

Am J Hum Genet. 2013 Mar 7; 92(3): 392–400. doi: 10.1016/j.ajhg.2013.02.004

PMCID:: PMC3591854

Abstract Article PDF–954K

Select item 35918392.

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Fatema Zahrani, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

Am J Hum Genet. 2013 Mar 7; 92(3): 387–391. doi: 10.1016/j.ajhg.2013.01.008

PMCID:: PMC3591839

Abstract Article PDF–596K

Select item 31780593.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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