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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.V126fs

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RPE65

NM_000329.3:p.V126fs

hg38:chr1:68444648 T>TN

Associated Papers

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

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2021

33952291 (PubMed )

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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."