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_MOESM4_ESM.xlsx › Fig._1d
Clinical and genetic analysis of X-linked nephrogenic diabetes insipidus caused by a novel AVPR2 mutation (NM_000054.6:exon3:c.245G>A (p.Cys82Tyr)) in a Chinese boy.
Yang J et al.
Intractable & Rare Diseases Research, 2025
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