Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.R106_R111del6
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NYX

NM_001378477.3:p.R106_R111del6

Associated Papers

The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism.

Xu Z et al.

Investigative Ophthalmology & Visual Science, 2024

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Sergouniotis PI et al.

Orphanet Journal of Rare Diseases, 2016

27628848 (PubMed )
Supplement: 13023_2016_505_MOESM1_ESM.pdf
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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."