Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.Y171Y
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GPR50

NM_004224.3:p.Y171Y

Associated Papers

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J et al.

Human Molecular Genetics, 2012

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Waddell LB et al.

Journal of Neuropathology and Experimental Neurology, 2011

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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."