Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.R1327*
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ASPM

NM_018136.5:p.R1327*

Associated Papers

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.

Asif M et al.

Cells, 2023

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 candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.

Wang C et al.

Aging, 2021

33428592 (PubMed )
Supplement: aging-13-202370-s002.xlsx › neoantigen_NvsE

A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report.

Bazgir A et al.

Iranian Journal of Public Health, 2019

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

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Abdel-Hamid MS et al.

American Journal of Medical Genetics. Part A, 2016

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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."