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Circulation, ISSN 0009-7322, 01/2010, Volume 121, Issue 1, pp. 26 - 33
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3255 - 3263
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Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2015, Volume 88, Issue 5, pp. 405 - 415
The spliceosome is a large ribonucleoprotein complex that removes introns from pre‐ mRNA transcripts. Mutations in EFTUD2 , encoding a component of the major... 
mandibulofacial dysostosis | congenital malformations | spliceosome | craniofacial | Spliceosome | Craniofacial | Congenital malformations | Mandibulofacial dysostosis | ESOPHAGEAL ATRESIA | MENTAL-RETARDATION | DEVELOPMENTAL DISORDER | AUTOSOMAL RECESSIVE INHERITANCE | COSTO-MANDIBULAR SYNDROME | DOMINANT RETINITIS-PIGMENTOSA | MESSENGER-RNA | CHOANAL ATRESIA | GENETICS & HEREDITY | OTO-FACIAL SYNDROME | RNA-Binding Proteins - genetics | Clubfoot - metabolism | Deafness - genetics | Spliceosomes - genetics | Humans | Male | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Ribs - abnormalities | Clubfoot - genetics | Heart Defects, Congenital - genetics | Micrognathism - metabolism | Spliceosomes - metabolism | Mandibulofacial Dysostosis - genetics | Ribs - metabolism | Facies | Hand Deformities, Congenital - metabolism | Female | Peptide Elongation Factors - genetics | Eukaryotic Initiation Factor-4A - genetics | Choanal Atresia - genetics | Micrognathism - genetics | RNA Splicing Factors | Pierre Robin Syndrome - metabolism | DEAD-box RNA Helicases - genetics | Choanal Atresia - metabolism | Pierre Robin Syndrome - genetics | Hand Deformities, Congenital - genetics | Deafness - metabolism | Heart Defects, Congenital - metabolism | Mandibulofacial Dysostosis - metabolism | Mutation | Deafness - congenital | Genetic disorders | Defects
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Development (Cambridge), ISSN 0950-1991, 12/2012, Volume 139, Issue 23, pp. 4449 - 4460
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PLoS Genetics, ISSN 1553-7390, 11/2008, Volume 4, Issue 11, pp. e1000259 - e1000259
Journal Article