Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Q3714fs
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USH2A

NM_206933.4:p.Q3714fs

Associated Papers

Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.

Jung S et al.

Ophthalmic Genetics, 2023

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Kim YJ et al.

Genes, 2021

33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.

Kim YN et al.

Journal of Ophthalmology, 2021

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