Varaico: Literature-Extracted Genetic Variants

Gene:ERVW-1
Variant:p.C288Y
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ERVW-1

NM_001130925.2:p.C288Y

Associated Papers

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Khan M et al.

Molecular Therapy. Nucleic Acids, 2020

32653833 (PubMed )
Supplement: mmc6.pdf

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Lesch B et al.

Molecular Vision, 2008

Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.

Hargitai J et al.

Investigative Ophthalmology & Visual Science, 2005

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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."