A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
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| Title: | A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia. |
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| Authors: | Cohen-Barak E; Department of Dermatology, Emek Medical Center, Afula, Israel erancb79@gmail.com.; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel., Danial-Farran N; Genetic Institute, Emek Medical Center, Afula, Israel., Chervinsky E; Genetic Institute, Emek Medical Center, Afula, Israel., Alimi-Kasem O; Genetic Institute, Emek Medical Center, Afula, Israel., Zagairy F; Department of Dermatology, Emek Medical Center, Afula, Israel., Livneh I; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel., Mawassi B; Department of Dermatology, Emek Medical Center, Afula, Israel., Hreish M; Department of Dermatology, Emek Medical Center, Afula, Israel., Khayat M; Genetic Institute, Emek Medical Center, Afula, Israel., Lossos A; Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Meiner V; Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Ehilevitch N; Rambam Health Care Campus, Haifa, Israel., Weiss K; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rambam Health Care Campus, Haifa, Israel., Shalev S; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Emek Medical Center, Pediatric Department A and Genetic Institute, Afula, Israel. |
| Source: | Journal of medical genetics [J Med Genet] 2023 Mar; Vol. 60 (3), pp. 233-240. Date of Electronic Publication: 2022 Jun 16. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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