Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.Q2598*
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ASPM

NM_018136.5:p.Q2598*

Associated Papers

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

Wu X et al.

Frontiers in Neuroscience, 2023

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.

Bolat H et al.

Molecular Syndromology, 2022

Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.

Türkyılmaz A et al.

Molecular Syndromology, 2022

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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."