Sulfonylurea-insensitive permanent neonatal diabetes caused by a severe gain-of-function Tyr330His substitution in Kir6.2

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McClenaghan C, Rapini N, De Rose DU, Gao J, Roeglin J, Bizzarri C, Schiaffini R, Tiberi E, Mucciolo M, Deodati A, Perri A, Vento G, Barbetti F, Nichols CG, and Cianfarani S