Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.Q2538*
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ASPM

NM_018136.5:p.Q2538*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM.

Wu X et al.

Frontiers in Neuroscience, 2023

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Tan CA et al.

Clinical Genetics, 2014

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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."