Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.R2700*
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ASPM

NM_018136.5:p.R2700*

Associated Papers

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

Wu X et al.

Frontiers in Neuroscience, 2023

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

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

Genetic heterogeneity in Pakistani microcephaly families revisited.

Ahmad I et al.

Clinical Genetics, 2017

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.

Miya F et al.

Scientific Reports, 2015

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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."