Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.L160F
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NMNAT1

NM_022787.4:p.L160F

Associated Papers

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Dueñas Rey A et al.

Genome Medicine, 2024

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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."