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Q36709030-E099DF90-6824-4ECB-A832-580D818145BE
Q36709030-E099DF90-6824-4ECB-A832-580D818145BE
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Statement
http://www.wikidata.org/entity/statement/Q36709030-E099DF90-6824-4ECB-A832-580D818145BE
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
P2860
Q36709030-E099DF90-6824-4ECB-A832-580D818145BE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36709030-E099DF90-6824-4ECB-A832-580D818145BE
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wasDerivedFrom
88eca0d440bdf5755a32c0c6cc6841a5fa51ff54
P2860
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.