Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.T3227delFs
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ASPM

NM_018136.5:p.T3227delFs

Associated Papers

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

Wu X et al.

Frontiers in Neuroscience, 2023

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Santos-Cortez RLP et al.

Human Genetics, 2018

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P et al.

Human Mutation, 2018

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

Khan A et al.

Genetic Testing and Molecular Biomarkers, 2018

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Mahmood S et al.

Orphanet Journal of Rare Diseases, 2011

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."