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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOP3A

Variant:p.L518_A521del4

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TOP3A

NM_004618.5:p.L518_A521del4

hg38:chr17:18290590 CGGCCTCGGTGAG>C

Associated Papers

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.

Kessler L et al.

Clinical Genetics, 2025

39663844 (PubMed )

Supplement: CGE-107-278-s001.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."