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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Detalles Bibliográficos
Autores principales: Schaefer, Christian, Bromberg, Yana, Achten, Dominik, Rost, Burkhard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Proceedings
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394413/
https://www.ncbi.nlm.nih.gov/pubmed/22759649
http://dx.doi.org/10.1186/1471-2164-13-S4-S11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3394413/
https://www.ncbi.nlm.nih.gov/pubmed/22759649
http://dx.doi.org/10.1186/1471-2164-13-S4-S11

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