Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H2
Variant:p.G287_G288insFs
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GTF2H2

NM_001515.4:p.G287_G288insFs

Associated Papers

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Ganji H et al.

Journal of Child Neurology, 2015

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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."