Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.L90L
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GNE

NM_005476.7:p.L90L

Associated Papers

Novel missense variants associated with GNE myopathy.

Ranta-Aho J et al.

Neuromuscular Disorders : Nmd, 2025

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.

Jiao K et al.

Muscle & Nerve, 2024

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

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

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Chakravorty S et al.

Frontiers in Neurology, 2020

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_2_-_Baseline
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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."