Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.D631H
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USH2A

NM_206933.4:p.D631H

Associated Papers

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Young SL et al.

Bmc Ophthalmology, 2022

35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM3_ESM.xlsx › gnomAD_with_predictors

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

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