Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.H212Y
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GYG1

NM_004130.4:p.H212Y

Associated Papers

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.

Hedberg-Oldfors C et al.

Acta Neurologica Scandinavica, 2018

Update on new muscle glycogenosis.

Laforêt P et al.

Current Opinion in Neurology, 2017

What have we learned about glycogenosis in recent years?

Laforêt P

Revue Neurologique, 2016

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.

Luo S et al.

Neuromuscular Disorders : Nmd, 2015

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