Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.E606Splc
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GNE

NM_005476.7:p.E606Splc

Associated Papers

Molecular genetics and therapeutic development for GNE myopathy.

Yoshioka W et al.

Journal of Human Genetics, 2025

Inclusion body myositis - pathomechanism and lessons from genetics.

Murnyák B et al.

Open Medicine (warsaw, Poland), 2015

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV et al.

Human Mutation, 2014

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Boyden SE et al.

Bmc Medical Genetics, 2011

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.

Bhattacharya S et al.

Journal of Neuromuscular Diseases, 0

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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."