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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| Main Authors: | M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez |
|---|---|
| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier España
2025-01-01
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| Series: | Neurología |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0213485322001062 |
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