Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.S2828_V2829delFs
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USH2A

NM_206933.4:p.S2828_V2829delFs

Associated Papers

Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36875754 (PubMed )
Supplement: DataSheet1.pdf

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

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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."