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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發表在:BMC Bioinformatics
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: BioMed Central 2018
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5781290/
https://ncbi.nlm.nih.gov/pubmed/29361909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2010-z
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