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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSN1S1

Variant:p.A117V

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CSN1S1

NM_001890.2:p.A117V

hg38:chr4:69942053 C>T

Associated Papers

Familial Alzheimer's Disease and Recessive Modifiers.

Vélez JI et al.

Molecular Neurobiology, 2020

31664702 (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."