Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.
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| Title: | Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification. |
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| Authors: | Lan SC; School of Medicine, National Taiwan University College of Medicine, Taipei, Taiwan., Huang YS; Institute of Bioinformatics and Structural Biology, National Tsing Hua University, Hsinchu, Taiwan., Tsai JY; Institute of Bioinformatics and Structural Biology, National Tsing Hua University, Hsinchu, Taiwan., Lan MY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, and Chang Gung University College of Medicine, Kaohsiung, Taiwan.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.; Center for Mitochondrial Research and Medicine, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan., Sun YJ; Institute of Bioinformatics and Structural Biology, National Tsing Hua University, Hsinchu, Taiwan. yjsun@life.nthu.edu.tw., Chang YY; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, and Chang Gung University College of Medicine, Kaohsiung, Taiwan. changyy7@gmail.com.; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan. changyy7@gmail.com. |
| Source: | Scientific reports [Sci Rep] 2025 May 28; Vol. 15 (1), pp. 18682. Date of Electronic Publication: 2025 May 28. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2045-2322 |
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| DOI: | 10.1038/s41598-025-03953-1 |