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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C9orf72

Variant:p.I308T

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C9orf72

NM_018325.5:p.I308T

hg38:chr9:27556729 A>G

Associated Papers

MAPT p.V363I mutation in a patient with presenile dementia and late amyotrophic lateral sclerosis.

Gómez-Tortosa E et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

41454905 (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."