Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.Y2517*
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ASPM

NM_018136.5:p.Y2517*

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

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

Pauta M et al.

Journal of Clinical Medicine, 2021

Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.

Pauta M et al.

Fetal Diagnosis and Therapy, 2021

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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."