Fig 1: (A). Sanger sequencing data of patient with SLC20A2 Asn384Lysfs*30 frameshift variant The arrow shows the mutation site. (B). SLC20A2 levels in the proband patient and the healthy controls.
Fig 2: (A). Structure of SLC20A2 protein and location of mutations in the loop 7, including the Asn384Lysfs*30 mutation [13,14,15,16,17,18,19,20] (B). Loss-of-function mechanisms as a result of SLC20A2 haploinsufficiency. The arrow means reduced levels of SLC20A2 protein, and increased levels of calcium phosphate. Star means the frameshift mutation here.
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