Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.L149fs
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NRL

NM_001354768.3:p.L149fs

Associated Papers

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.

Newman H et al.

Investigative Ophthalmology & Visual Science, 2016

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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."