Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.N330_R331delFs
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USH2A

NM_206933.4:p.N330_R331delFs

Associated Papers

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.

Falsini B et al.

Diagnostics (basel, Switzerland), 2021

Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy.

Galli-Resta L et al.

Investigative Ophthalmology & Visual Science, 2018

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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."