The deleterious effect of missense mutations on pre-mRNA splicing
The presence of missense mutations detected during genetic testing makes it difficult to classify their pathogenic effect. It is possible that the predicted amino acid change affects protein function; however, it is also possible that a missense mutation does not act at the protein level but rather...
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| Format: | bookPart |
| Language: | eng |
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2011
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| Online Access: | http://hdl.handle.net/10400.18/239 |
| Country: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/239 |