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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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Institution:
University of Oxford
Department:
Oxford, MSD, Paediatrics
Campino, S More by this author
Rowlands, K More by this author
Copley, RR More by this author
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Journal:
PLoS genetics
Volume:
3
Issue:
6
Publication date:
2007-06-05
DOI:
EISSN:
1553-7404
URN:
uuid:53e06c1b-4041-481e-b921-fa98e5028286
Source identifiers:
94700
Local pid:
pubs:94700
Language:
English

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