Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C3358S
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USH2A

NM_206933.4:p.C3358S

Associated Papers

Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort.

Ozguc Caliskan B et al.

Clinical Genetics, 2024

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Li W et al.

Frontiers in Genetics, 2022

36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants
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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."