Concepedia

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope,

The American Journal of Human Genetics · 2014 · 275 citations · 27 references

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27

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Comparative Protein Structure Modeling Using Modeller

Narayanan Eswar, Ben Webb, Marc A. Martı́-Renom et al. · Current Protocols in Bioinformatics · 2006 · 4.6K citations · Full text

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Assessment of protein models with three-dimensional profiles

Roland Lüthy, James U. Bowie, David Eisenberg · Nature · 1992 · 3.5K citations

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[20] VERIFY3D: Assessment of protein models with three-dimensional profiles

David Eisenberg, Roland Lüthy, James U. Bowie · Methods in enzymology on CD-ROM/Methods in enzymology · 1997 · 2.2K citations

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Genome-wide association study reveals genetic risk underlying Parkinson's disease

Javier Simón‐Sánchez, Claudia Schulte, José Brás et al. · Nature Genetics · 2009 · 2K citations · Full text

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