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SBDS gene

Known as: SDS, SBDS ribosome assembly guanine nucleotide exchange factor, FLJ10917 
This gene plays a role in ribosome formation.
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
SBDS protein (deficient in the inherited leukemia-predisposition disorder Shwachman-Diamond syndrome) and the GTPase EFL1 (an EF… Expand
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Highly Cited
2014
Highly Cited
2014
Alzheimer's disease (AD) is associated with an elevated risk for seizures that may be fundamentally connected to cognitive… Expand
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Highly Cited
2009
Highly Cited
2009
Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1… Expand
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Highly Cited
2009
Highly Cited
2009
Absence seizures are a leading form of childhood epilepsy. Human and mouse P/Q-type calcium channel gene mutations initiate a… Expand
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Highly Cited
2008
Highly Cited
2008
The Intergovernmental Panel on Climate Change (IPCC) provides guidelines for countries to report greenhouse gas removals by sinks… Expand
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Highly Cited
2007
Highly Cited
2007
The autosomal recessive disorder Shwachman-Diamond syndrome, characterized by bone marrow failure and leukemia predisposition, is… Expand
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Highly Cited
2007
Highly Cited
2007
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic… Expand
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Highly Cited
2005
Highly Cited
2005
A combination of structural, biochemical, and genetic studies in model organisms was used to infer a cellular role for the human… Expand
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Highly Cited
2004
Highly Cited
2004
Due to the involvement of cortical neurons in spike-wave discharge (SWD) initiation, and the contribution of voltage-gated sodium… Expand
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Highly Cited
2003
Highly Cited
2003
Shwachman–Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic… Expand
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