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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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Autori principali: Schaefer, Christian, Bromberg, Yana, Achten, Dominik, Rost, Burkhard
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2012
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Accesso online: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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