Two Rare Variants in <i>PLAU</i> and <i>BACE1</i> Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?

We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown sign...

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Autores principales: Katarzyna Gaweda-Walerych, Emilia J. Sitek, Małgorzata Borczyk, Mariusz Berdyński, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Jarosław Sławek, Cezary Zekanowski
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/7b78f7f8998b42bda6cc78ab736d41a2
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