Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.Q2594fs
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ASPM

NM_018136.5:p.Q2594fs

Associated Papers

Counteracting lineage-specific transcription factor network finely tunes lung adeno-to-squamous transdifferentiation through remodeling tumor immune microenvironment.

Tang S et al.

National Science Review, 2023

37051524 (PubMed )
Supplement: nwad028_supplemental_files.zip › Table_S2.xlsx › Mutations_in_93_WGS_samples

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

Wu X et al.

Frontiers in Neuroscience, 2023

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

The molecular landscape of ASPM mutations in primary microcephaly.

Nicholas AK et al.

Journal of Medical Genetics, 2009

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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."