Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H188delFs
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GNE

NM_001128227.3:p.H188delFs

Associated Papers

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › 20230106_Supplementary_Tables.xlsx › Supplementary_Table_2

Progression of GNE Myopathy Based on the Patient-Reported Outcome.

Park YE et al.

Journal of Clinical Neurology (seoul, Korea), 2019

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