Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.P746delFs
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USH2A

NM_206933.4:p.P746delFs

Associated Papers

Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa.

Stephenson KAJ et al.

Investigative Ophthalmology & Visual Science, 2025

40607868 (PubMed )
Supplement: iovs-66-9-11_s001.pdf

Clinical and molecular findings in children with retinitis pigmentosa.

Li C et al.

Ophthalmic Genetics, 2024

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Tuupanen S et al.

Translational Vision Science & Technology, 2022

34985506 (PubMed )
Supplement: tvst-11-1-6_s001.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."