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CC2D2A gene

Known as: CC2D2A, KIAA1345, JBTS9 
National Institutes of Health

Papers overview

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2017
2017
Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of… 
2016
2016
1.5 Mutational spectrum Data according to published literature and HGMD database (https:// portal.biobase-international.com… 
2014
2014
Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases… 
2012
2012
Primary cilia provide a means of regulating and concentrating receptors and other proteins essential for transmission of sensory… 
2012
2012
Background Understanding the pathogenesis of the autosomal recessive cystic kidney disease, nephronophthisis (NPHP) remains a… 
2011
2011
1.4 OMIM# of the gene(s)MKS1, MIM# 609883; TMEM216, MIM# 613277; TMEM67,MIM#609884; CEP290, MIM# 610142; RPGRIP1L, MIM# 610937… 
2009
2009
Meckel syndrome (MKS) is an autosomal recessive lethal disorder characterized by a combination of malformations. Death occurs…