Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Y4128fs
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USH2A

NM_206933.4:p.Y4128fs

Associated Papers

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.

Fakin A et al.

International Journal of Molecular Sciences, 2021

34638692 (PubMed )
Supplement: ijms-22-10352-s001.zip › ijms-1381333-supplementary.pdf

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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