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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN2

Variant:p.D55_S66delFs

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PSEN2

NM_000447.3:p.D55_S66delFs

hg38:chr1:226883723 GAGGACGGTGAGGAGGACCCTGACCGCTATGTCTGT>G

Associated Papers

Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.

Gao J et al.

Molecular Neurobiology, 2024

38157120 (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."