Cryptic Splice Sites

Known as: Cryptic Splice Site, Splice Site, Cryptic, Splice Sites, Cryptic 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2009-2016
01220092016

Papers overview

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2017
2017
We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease… (More)
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2017
2017
Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually… (More)
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2017
2017
A new member of the genus Deltapartitivirus was identified containing three dsRNAs with an estimated size of 1.71, 1.49 and 1.43… (More)
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2016
2016
While 9% of human pathogenic variants have an established effect on pre-mRNA splicing, it is suspected that an additional 20% of… (More)
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2016
2016
Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that… (More)
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2014
2014
Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is… (More)
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2011
2011
We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing… (More)
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2009
2009
Retinitis pigmentosa (RP) is a degenerative retinopathy leading to visual impairment in more than 1.5 million patients worldwide… (More)
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