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Disease-related mutations predicted to impact protein function
BACKGROUND: Non-synonymous single nucleotide polymorphisms (nsSNPs) alter the protein sequence and can cause disease. The impact has been described by reliable experiments for relatively few mutations. Here, we study predictions for functional impact of disease-annotated mutations from OMIM, PMD and...
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| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2012
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3394413/ https://ncbi.nlm.nih.gov/pubmed/22759649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-13-S4-S11 |
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