Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.T2295insFs
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NOTCH2

NM_024408.4:p.T2295insFs

Associated Papers

Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

Narumi Y et al.

American Journal of Medical Genetics. Part A, 2013

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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."