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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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Bibliografski detalji
Glavni autori: Schaefer, Christian, Bromberg, Yana, Achten, Dominik, Rost, Burkhard
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2012
Teme:
Online pristup: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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