Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.Y113*
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NRL

NM_001354768.3:p.Y113*

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

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

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

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.

Khan AO

Retina (philadelphia, Pa.), 2020

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

de Castro-Miró M et al.

Plos One, 2016

28005958 (PubMed )
Supplement: pone.0168966.s005.xls › Hoja1

Electronegative Electroretinograms in the United Arab Emirates.

Alsalamah AK et al.

Middle East African Journal of Ophthalmology, 0

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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."