Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.Q3201*
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ASPM

NM_018136.5:p.Q3201*

Associated Papers

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

Wu X et al.

Frontiers in Neuroscience, 2023

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Makhdoom EUH et al.

Genes, 2021

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S et al.

Molecular Genetics & Genomic Medicine, 2020

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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."