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SMAD4
HGNC ↗1 article(s) in the watch · Constitutional genetics
SMAD4 is a central mediator of the TGF-β/BMP signalling pathway. Germline pathogenic SMAD4 variants are associated with juvenile polyposis syndrome, the juvenile polyposis–hereditary haemorrhagic telangiectasia overlap syndrome, and Myhre syndrome.
Curated publications
Frequently asked questions
How many Geno'X publications cover the SMAD4 gene?+
1 publication(s) on SMAD4 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
