Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.L153P
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NMNAT1

NM_022787.4:p.L153P

Associated Papers

[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

Kaplan J et al.

Medecine Sciences : M/s, 2013

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Perrault I 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."