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Title
Nephronophthisis: A review of genotype-phenotype correlation
Authors
Keywords
-
Journal
NEPHROLOGY
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-05-02
DOI
10.1111/nep.13393
References
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- Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney
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- (2012) Moumita Chaki et al. CELL
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