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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOP1

Variant:p.K402T

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TOP1

NM_003286.4:p.K402T

hg38:chr20:41101250 A>C

Associated Papers

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.

Selmer KK et al.

Acta Ophthalmologica, 2010

19183411 (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."