Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
Nature Genetics2012Vol. 45(1), pp. 93–97
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M. Andrew Nesbit, Fadil Hannan, Sarah Howles, Adam J. Reed, Treena Cranston, Clare Thakker, Lorna Gregory, Andrew J. Rimmer, Nigel Rust, Una Graham, Patrick J. Morrison, Steven Hunter, Michael P. Whyte, Gil McVean, David Buck, Rajesh V. Thakker
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