Varaico: Literature-Extracted Genetic Variants

Gene:PTBP2
Variant:p.G3R
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PTBP2

NM_021190.4:p.G3R

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

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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."