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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN2

Variant:p.S147R

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PSEN2

NM_000447.3:p.S147R

hg38:chr1:226885620 A>C

Associated Papers

Presenilin2 D439A Mutation Induces Dysfunction of Mitochondrial Fusion/Fission Dynamics and Abnormal Regulation of GTPase Activity.

Gao C et al.

Molecular Neurobiology, 2024

38159198 (PubMed )

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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."