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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Schaefer, Christian, Bromberg, Yana, Achten, Dominik, Rost, Burkhard
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2012
Schlagworte:
Online Zugang: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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