Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.S904_T907insFs
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USH2A

NM_206933.4:p.S904_T907insFs

Associated Papers

Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy.

Antropoli A et al.

European Journal of Ophthalmology, 2025

Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.

Colombo L et al.

Ophthalmic Research, 2022

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S4_AR

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E et al.

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

32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions

Photoreceptor-Specific Loss of Perifoveal Temporal Contrast Sensitivity in Retinitis Pigmentosa.

Huchzermeyer C et al.

Translational Vision Science & Technology, 2020

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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."