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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.T454delFs

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RPE65

NM_000329.3:p.T454delFs

hg38:chr1:68431154 GT>G

Associated Papers

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

Biswas P et al.

Physiological Genomics, 2017

28130426 (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."