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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN1

Variant:p.D257Splc

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PSEN1

NM_000021.4:p.D257Splc

hg38:chr14:73198010 T>C

Associated Papers

Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil.

Abdala BB et al.

Neuroscience Letters, 2017

28554858 (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."