A variant in GRN of Spanish origin presenting with heterogeneous phenotypes

Introduction: The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent. Methods: We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings....

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Bibliographic Details
Main Authors: M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez
Format: Article
Language:English
Published: Elsevier España 2025-01-01
Series:Neurología (English Edition)
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Online Access:http://www.sciencedirect.com/science/article/pii/S2173580822001122
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