Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.I394insFs
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RPE65

NM_000329.3:p.I394insFs

Associated Papers

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2021

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.

Zhong Z et al.

Molecular Vision, 2019

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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."