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Martin J. Hicks et al.
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Petr Divina et al.
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Xiang-Yang Zhong et al.
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Chaolin Zhang et al.
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Nina Kossack et al.
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Pre-mRNA secondary structures influence exon recognition
Michael Hiller et al.
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Crossregulation and functional redundancy between the splicing regulator PTB and its paralogs nPTB and ROD1
Rachel Spellman et al.
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Ernanuele Buratti et al.
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RNA-editing-mediated exon evolution
Galit Lev-Maor et al.
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K. Wimmer et al.
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N Feldhahn et al.
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M Tanioka et al.
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HX Lei et al.
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A mutation hotspot at the p14ARF splice site
M Harland et al.
ONCOGENE (2005)
Determinants of the inherent strength of human 5′ splice sites
X Roca et al.
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Cryptic 5′ splice site activation in SCN5A associated with Brugada syndrome
K Hong et al.
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JF Abril et al.
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Exonization of AluYa5 in the human ACE gene requires mutations in both 3 ' and 5 ' splice sites and is facilitated by a conserved splicing enhancer
HX Lei et al.
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Biased exon/intron distribution of cryptic and de novo 3 ' splice sites
J Kralovicova et al.
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Minimal conditions for exonization of intronic sequences:: 5′ splice site formation in Alu exons
R Sorek et al.
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R Flomen et al.
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P Stoilov et al.
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E Buratti et al.
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Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay
MC Wollerton et al.
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G Ast
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ZF Wang et al.
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J Královicová et al.
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WG Fairbrother et al.
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XHF Zhang et al.
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L Giot et al.
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T Kashima et al.
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ESEfinder: a web resource to identify exonic splicing enhancers
L Cartegni et al.
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MT Nasim et al.
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The birth of an alternatively spliced exon:: 3′ splice-site selection in Alu exons
G Lev-Maor et al.
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Congenital afibrinogenemia:: first identification of splicing mutations in the fibrinogen Bβ-chain gene causing activation of cryptic splice sites
S Spena et al.
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JE Heinonen et al.
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WG Fairbrother et al.
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A new type of mutation causes a splicing defect in ATM
F Pagani et al.
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A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome:: creation of a 5′ splice donor site with variant GC consensus and elongation of the upstream exon
O Sakamoto et al.
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Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions
TA Thanaraj et al.
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RNA tertiary interactions in the large ribosomal subunit: The A-minor motif
P Nissen et al.
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A universal mode of helix packing in RNA
EA Doherty et al.
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Activation of a cryptic 5′ splice site by U1 snRNA
CJ Alvarez et al.
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Initial sequencing and analysis of the human genome
ES Lander et al.
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M Burset et al.
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A story: Unpaired adenosine bases in ribosomal RNAs
RR Gutell et al.
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M Burset et al.
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Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
Y Hofmann et al.
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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
E Ars et al.
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