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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOP3A

Variant:p.K489_I490Splc

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TOP3A

NM_004618.5:p.K489_I490Splc

hg38:chr17:18290697 C>A

Associated Papers

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Erdinc D et al.

Embo Molecular Medicine, 2023

37013609 (PubMed )

Supplement: EMMM-15-e16775-s002.pdf

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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."