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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASPM

Variant:p.Y2517*

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ASPM

NM_018136.5:p.Y2517*

hg38:chr1:197101700 A>T

Associated Papers

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.

Spedicati B et al.

Genes, 2025

41153384 (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."