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familial hypocalciuric hypercalcemia

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Description
English: Genetic analysis of CaSR in the proband and his parents. (a) Mutation analysis revealed a missense mutation of exon 7 (c.2279T>A, p.I760N) on the CaSR in the proband and his father (b, c). Sequences of his mother were normal. (d) Prediction of the impact of p.I760N mutation on the structure and function of the CaSR protein using PolyPhen2.
Date
Source https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486235/
Author Bo Wu, Ou Wang, Yan Jiang, Mei Li,Xiaoping Xing, and Weibo Xia

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current23:02, 24 October 2023Thumbnail for version as of 23:02, 24 October 2023700 × 231 (39 KB)Ozzie10aaaa (talk | contribs)Uploaded a work by Bo Wu, Ou Wang, Yan Jiang, Mei Li,Xiaoping Xing, and Weibo Xia from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486235/ with UploadWizard

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