Varaico: Literature-Extracted Genetic Variants

Gene:PTBP2
Variant:p.S460insFs
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PTBP2

NM_021190.4:p.S460insFs

Associated Papers

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS et al.

Brain : a Journal of Neurology, 2007

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D et al.

Science (new York, N.y.), 2006

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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."