PMC Links for OMIM (Select 615140) - PMC - NCBI

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Items: 2

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

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PMC Links for OMIM (Select 615140) (2)
PMC
Rheumatoid arthritis: synovial macrophages
Rheumatoid arthritis: synovial macrophages
Accession: GDS3192

GEO DataSets
Related DataSets for GEO Profiles (Select 51035409) (1)
GEO DataSets
E3 ubiquitin-protein ligase UBR4 isoform X33 [Homo sapiens]
E3 ubiquitin-protein ligase UBR4 isoform X33 [Homo sapiens]
gi|2217265857|ref|XP_047272465.1|

Protein
Prl7a2 prolactin family 7, subfamily a, member 2 [Mus musculus]
Prl7a2 prolactin family 7, subfamily a, member 2 [Mus musculus]
Gene ID:19114

Gene

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