Associated Papers
A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.
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Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
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Frontiers in Pediatrics, 2021
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How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
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Nucleic Acids Research, 2009
19139070 (PubMed )
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AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
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