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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOPORS

Variant:p.K797delFs

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TOPORS

NM_005802.5:p.K797delFs

hg38:chr9:32542133 AT>A

Associated Papers

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K et al.

Scientific Reports, 2018

29844330 (PubMed )

Supplement: 41598_2018_26524_MOESM1_ESM.docx

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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."