Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Q64*
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RPE65

NM_000329.3:p.Q64*

Associated Papers

A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.

Mo G et al.

Plos One, 2014

Pathways to photoreceptor cell death in inherited retinal degenerations.

Pierce EA

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2001

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

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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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."