Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.T4038A
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USH2A

NM_206933.4:p.T4038A

Associated Papers

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

D'Esposito F et al.

Medicina (kaunas, Lithuania), 2024

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

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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."