Varaico: Literature-Extracted Genetic Variants

Gene:NR2E3
Variant:p.V75insFs
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NR2E3

NM_014249.4:p.V75insFs

Associated Papers

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.

Iarossi G et al.

Diagnostics (basel, Switzerland), 2022

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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."