Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.K1575*
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USH2A

NM_206933.4:p.K1575*

Associated Papers

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Van Vooren E et al.

Investigative Ophthalmology & Visual Science, 2025

40985799 (PubMed )
Supplement: iovs-66-12-53_s001.docx

Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.

Xue K et al.

Expert Opinion on Investigational Drugs, 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."