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CC2D2A gene

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

Papers overview

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2018
2018
Although many genes have been identified using high throughput technologies in endometriosis (ES), only a small number of… Expand
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2017
2017
Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of… Expand
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2013
2013
Background: RP2 function in ciliogenesis is enigmatic. Results: Basal body tethering of TbRP2 depends only on N-terminal TOF-LisH… Expand
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2012
2012
In addition to their role in motility, eukaryotic cilia serve as a distinct compartment for signal transduction and regulatory… Expand
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Highly Cited
2011
Highly Cited
2011
Ciliopathies are a genetically and phenotypically heterogeneous group of human developmental disorders whose root cause is the… Expand
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2011
2011
1.4 OMIM# of the gene(s)MKS1, MIM# 609883; TMEM216, MIM# 613277; TMEM67,MIM#609884; CEP290, MIM# 610142; RPGRIP1L, MIM# 610937… Expand
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2009
2009
Meckel-Gruber syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain… Expand
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Highly Cited
2008
Highly Cited
2008
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia… Expand
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Highly Cited
2008
Highly Cited
2008
Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and… Expand
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Highly Cited
2008
Highly Cited
2008
Autosomal-recessive inheritance is believed to be relatively common in mental retardation (MR), although only four genes for… Expand
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