Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.M1insFs
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GNE

NM_005476.7:p.M1insFs

Associated Papers

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

40225917 (PubMed )
Supplement: 7377504.f2.xlsx › Sheet1

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV et al.

Human Mutation, 2014

Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.

No D et al.

Genetic Testing and Molecular Biomarkers, 2013

Hereditary inclusion body myopathy: a decade of progress.

Huizing M et al.

Biochimica Et Biophysica Acta, 2009

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Broccolini A et al.

Human Mutation, 2004

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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."