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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCNF

Variant:p.R123H

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CCNF

NM_001761.3:p.R123H

hg38:chr16:2437150 G>A

Associated Papers

Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats.

Chio A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2022

36008116 (PubMed )

Supplement: jnnp-2022-329376supp001.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."