Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.K2591_K2592delFs
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ASPM

NM_018136.5:p.K2591_K2592delFs

Associated Papers

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

Wu X et al.

Frontiers in Neuroscience, 2023

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

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Hu H et al.

Cell Cycle (georgetown, Tex.), 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."