Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.G2281_I2282insFs
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NOTCH2

NM_024408.4:p.G2281_I2282insFs

Associated Papers

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.

Isidor B et al.

Human Mutation, 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."