Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.
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| Title: | Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance. |
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| Authors: | Gillesse EH; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Wan M; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Clinical Neurosciences, University of Calgary, Calgary, Canada., Ashtiani S; Department of Medical Genetics, University of Calgary, Calgary, Canada., Suchowersky O; Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Parboosingh JS; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Bernier FP; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Lamont RE; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Innes AM; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Au PYB; Alberta Children's Hospital Research Institute, Calgary, Canada. Ping-Yee.Au@albertahealthservices.ca.; Department of Medical Genetics, University of Calgary, Calgary, Canada. Ping-Yee.Au@albertahealthservices.ca. |
| Corporate Authors: | Care4Rare Canada Consortium |
| Source: | Neurogenetics [Neurogenetics] 2026 Feb 09; Vol. 27 (1), pp. 12. Date of Electronic Publication: 2026 Feb 09. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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