Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.N6K
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GNE

NM_005476.7:p.N6K

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

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

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Zhang W et al.

Frontiers in Pediatrics, 2022

36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
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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."