Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.R216*
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GYG1

NM_004130.4:p.R216*

Associated Papers

Differential diagnosis of vacuolar myopathies in the NGS era.

Mair D et al.

Brain Pathology (zurich, Switzerland), 2020

Update on polyglucosan storage diseases.

Cenacchi G et al.

Virchows Archiv : an International Journal of Pathology, 2019

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R et al.

Neurology. Genetics, 2017

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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."