Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.K2712fs
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ASPM

NM_018136.5:p.K2712fs

Associated Papers

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

Wu X et al.

Frontiers in Neuroscience, 2023

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Duerinckx S et al.

Molecular Genetics & Genomic Medicine, 2021

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3

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."