Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

BACKGROUND: Next-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains information abo...

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Detalles Bibliográficos
Autores principales: Sivley, R. Michael, Sheehan, Jonathan H., Kropski, Jonathan A., Cogan, Joy, Blackwell, Timothy S., Phillips, John A., Bush, William S., Meiler, Jens, Capra, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5781290/
https://www.ncbi.nlm.nih.gov/pubmed/29361909
http://dx.doi.org/10.1186/s12859-018-2010-z

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