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Identification of common genetic variation that modulates alternative splicing

Abstract:

Alternative splicing of genes is an efficient means of generating variation in protein function. Several disease states have been associated with rare genetic variants that affect splicing patterns. Conversely, splicing efficiency of some genes is known to vary between individuals without apparent ill effects. What is not clear is whether commonly observed phenotypic variation in splicing patterns, and hence potential variation in protein function, is to a significant extent determined by nat...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1371/journal.pgen.0030099

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Institution:
University of Oxford
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Author
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Institution:
University of Oxford
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Author
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Institution:
University of Oxford
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Author
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Institution:
University of Oxford
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Genet Journal website
Volume:
3
Issue:
6
Article number:
e99
Publication date:
2007-01-01
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
Source identifiers:
54074
Language:
English
Keywords:
Pubs id:
pubs:54074
UUID:
uuid:cff0500c-1344-4494-b08d-b6aa6e6f0311
Local pid:
pubs:54074
Deposit date:
2012-12-19

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