Associated Papers
A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.
Mighell TL et al.
Nature Structural & Molecular Biology, 2025
40983772 (PubMed )
Supplement: 41594_2025_1659_MOESM5_ESM.xlsx › Fig._2a
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
33996673 (PubMed )
Supplement: Data_Sheet_1.pdf
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
Huang L et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.
Takatani T et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010
Select a paper to view details