Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.H125Q
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NRL

NM_001354768.3:p.H125Q

Associated Papers

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Gao M et al.

Molecular Vision, 2016

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Kanda A et al.

Human Mutation, 2007

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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."