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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C9orf72

Variant:p.H216Y

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C9orf72

NM_018325.5:p.H216Y

hg38:chr9:27561604 G>A

Associated Papers

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Spargo TP et al.

Biomedicines, 2025

40426848 (PubMed )

Supplement: biomedicines-13-01018-s001.zip › biomedicines-3524804-supplementary.pdf

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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."