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
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 case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.
Ashida A et al.
Pediatric Nephrology (berlin, Germany), 2007
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