Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.V151I
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NMNAT1

NM_022787.4:p.V151I

Associated Papers

Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.

Yi Z et al.

Eye (london, England), 2022

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

Koenekoop RK et al.

Nature Genetics, 2012

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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."