Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P522fs
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SMAD4

NM_005359.6:p.P522fs

Associated Papers

A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.

Johansson J et al.

Case Reports in Gastrointestinal Medicine, 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."