Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Q2862*
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USH2A

NM_206933.4:p.Q2862*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.

Savastano MC et al.

Translational Vision Science & Technology, 2024

39212608 (PubMed )
Supplement: tvst-13-8-44_s001.pdf

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

Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.

Su BN et al.

Frontiers in Aging Neuroscience, 2022

36034145 (PubMed )
Supplement: Table_2.XLSX › Sheet1

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

Falsini B et al.

Diagnostics (basel, Switzerland), 2021

Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Wafa TT et al.

Clinical Genetics, 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

Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation.

Magliulo G et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2017

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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."