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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN1

Variant:p.L172F

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PSEN1

NM_000021.4:p.L172F

hg38:chr14:73186888 G>C

Associated Papers

Autophagy regulation by RNA alternative splicing and implications in human diseases.

González-Rodríguez P et al.

Nature Communications, 2022

35585060 (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."