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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.
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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  Data: Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.
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  Data: <searchLink fieldCode="AU" term="%22Gillesse+EH%22">Gillesse EH</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Wan+M%22">Wan M</searchLink>; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Clinical Neurosciences, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Ashtiani+S%22">Ashtiani S</searchLink>; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Suchowersky+O%22">Suchowersky O</searchLink>; Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Parboosingh+JS%22">Parboosingh JS</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Bernier+FP%22">Bernier FP</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Lamont+RE%22">Lamont RE</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Au+PYB%22">Au PYB</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2026 Feb 09; Vol. 27 (1), pp. 12. <i>Date of Electronic Publication: </i>2026 Feb 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9709714 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1364-6753 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213646745%22">13646745 </searchLink><i>NLM ISO Abbreviation: </i>Neurogenetics <i>Subsets: </i>MEDLINE
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              Text: 2026 Feb 09
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