Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V491E
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RPE65

NM_000329.3:p.V491E

Associated Papers

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.

Liu XZ et al.

American Journal of Human Genetics, 1999

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

Perrault I et al.

American Journal of Human Genetics, 1999

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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."