Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.V369delFs
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RPE65

NM_000329.3:p.V369delFs

Associated Papers

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.

Abiib S et al.

Genes, 2025

41465088 (PubMed )
Supplement: genes-16-01415-s001.zip › Supplementary_Table_Final.pdf

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

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