Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P522delFs
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SMAD4

NM_005359.6:p.P522delFs

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

Abstracts of InSiGHT 5th Biennial Meeting. Pedigree, familial aspects of cancer and the Human Variome Project in conjunction with the COSA Familial Cancer Group. August 28-31, 2013.

Unknown Author

Familial Cancer, 2013

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