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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASPM

Variant:p.K3248delFs

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ASPM

NM_018136.5:p.K3248delFs

hg38:chr1:197090280 GT>G

Associated Papers

Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities.

Wang Y et al.

Annals of Medicine, 2024

39239799 (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."