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/vufind/Search/Results?lookfor=%22RNA+Splice+Sites%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22RNA+Splice+Sites%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
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PubPharm (3.862)
1
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping
enthalten in:
Ophthalmic genetics
| 2024
von
Waldock, W.
|
Taylor, L.
|
Sperring, S.
| +6
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2
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
enthalten in:
BMC medical genomics
| 2024
von
Placidi, G.
|
D'Agostino, E.
|
Maltese, P.
| +7
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3
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects
enthalten in:
Nature communications
| 2024
von
Atkinson, R.
|
Georgiou, M.
|
Yang, C.
| +29
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4
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing
enthalten in:
Brain : a journal of neurology
| 2024
von
Sparber, P.
|
Sharova, M.
|
Davydenko, K.
| +3
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5
A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease
enthalten in:
Thrombosis research
| 2024
von
Liang, Q.
|
Zhang, Z.
|
Ding, B.
| +6
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6
Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation
enthalten in:
Journal of thrombosis and haemostasis : JTH
| 2024
von
Zhang, H.
|
Xin, M.
|
Lin, L.
| +3
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7
DRANetSplicer : A Splice Site Prediction Model Based on Deep Residual Attention Networks
enthalten in:
Genes
| 2024
von
Liu, X.
|
Zhang, H.
|
Zeng, Y.
| +3
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8
Cryo-EM analyses of dimerized spliceosomes provide new insights into the functions of B complex proteins
enthalten in:
The EMBO journal
| 2024
von
Zhang, Z.
|
Kumar, V.
|
Dybkov, O.
| +4
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9
Large-scale analysis reveals splicing biomarkers for tuberculosis progression and prognosis
enthalten in:
Computers in biology and medicine
| 2024
von
Lai, H.
|
Lyu, M.
|
Ruan, H.
| +6
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10
Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage
enthalten in:
RNA (New York, N.Y.)
| 2024
von
Osterhoudt, K.
|
Bagno, O.
|
Katzman, S.
| +1
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RNA Splice Sites
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664
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622
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377
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239
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234
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206
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200
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184
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175
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173
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151
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148
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146
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139
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