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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AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
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Wildin RS et al.
American Journal of Human Genetics, 1994
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