Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.L8fs
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NRL

NM_001354768.3:p.L8fs

Associated Papers

NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.

Raza M et al.

Ophthalmic Genetics, 2026

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."