Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT2
Variant:p.V257M
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NMNAT2

NM_015039.4:p.V257M

Associated Papers

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Siemiatkowska AM et al.

Molecular Vision, 2014

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ 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."