Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R42fs
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PSEN1

NM_000021.4:p.R42fs

Associated Papers

A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.

Malaguti MC et al.

Journal of Movement Disorders, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."