Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
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Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseNucleic Acid-Sensing Receptors: Rheostats of Autoimmunity and AutoinflammationRibonuclease H2 in health and disease.Synergy between Hematopoietic and Radioresistant Stromal Cells Is Required for Autoimmune Manifestations of DNase II-/-IFNaR-/- MiceExtensive regulation of nicotinate phosphoribosyltransferase (NAPRT) expression in human tissues and tumors.Taking the STING out of TLR-driven autoimmune diseases: good, bad, or indifferent?MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.Abasic and oxidized ribonucleotides embedded in DNA are processed by human APE1 and not by RNase H2.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
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P2860
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 May 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Synonymous mutations in RNASEH ...... in Aicardi-Goutières syndrome.
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Synonymous mutations in RNASEH ...... in Aicardi-Goutières syndrome.
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type
label
Synonymous mutations in RNASEH ...... in Aicardi-Goutières syndrome.
@en
Synonymous mutations in RNASEH ...... in Aicardi-Goutières syndrome.
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prefLabel
Synonymous mutations in RNASEH ...... in Aicardi-Goutières syndrome.
@en
Synonymous mutations in RNASEH ...... in Aicardi-Goutières syndrome.
@nl
P2093
P2860
P50
P356
P1433
P1476
Synonymous mutations in RNASEH ...... in Aicardi-Goutières syndrome
@en
P2093
Andrea Leitch
Beverley H Anderson
Blanca Gener
David Gent
Fred W Perrino
Gabriella M A Forte
Hannah Gornall
Ivana Olivieri
Lieven Lagae
Marcin Szynkiewicz
P2860
P304
P356
10.1002/HUMU.22336
P50
P577
2013-05-13T00:00:00Z