Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.G3264fs
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USH2A

NM_206933.4:p.G3264fs

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

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C et al.

European Journal of Human Genetics : Ejhg, 2016

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