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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOPORS

Variant:p.I406_N407delins

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TOPORS

NM_005802.5:p.I406_N407delins

hg38:chr9:32543305 T>A

Associated Papers

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.

da Palma MM et al.

Ophthalmic Genetics, 2024

37592806 (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."