Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
Published 2016 View Full Article
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Title
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
Authors
Keywords
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Journal
Scientific Reports
Volume 6, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-06-29
DOI
10.1038/srep28755
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- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
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- (2008) Veronique B D Kitiratschky et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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