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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPTN

Variant:p.N51I

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OPTN

NM_001008212.2:p.N51I

hg38:chr10:13109274 A>T

Associated Papers

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Perrone F et al.

Genome Medicine, 2021

33853652 (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."