Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.N73insFs
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GH1

NM_000515.5:p.N73insFs

Associated Papers

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.

Taube JR et al.

Human Molecular Genetics, 2014

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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."