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coding mutations
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publication
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
2016 |
First Faculty of Medicine
publication
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
2018 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
2016 |
First Faculty of Medicine
publication
Prevalence of mutations in AGPAT2 among human lipodystrophies
2003 |
Second Faculty of Medicine
publication
Mutations in HIV-1 gag and pol compensate for the loss of viral fitness caused by a highly mutated protease
2012 |
Faculty of Science
publication
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
2010 |
Second Faculty of Medicine
publication
Finding the genetic causes of chronic kidney disease
2021 |
First Faculty of Medicine