Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.K152insFs
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GNE

NM_005476.7:p.K152insFs

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

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.

Wei XJ et al.

Frontiers in Neurology, 2023

Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients.

Su F et al.

Experimental and Therapeutic Medicine, 2018

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