PR:000000369 smad4 sequence variant R361C (human) hSMAD4/var:R361C|smad4 sequence variant 3 (human)|UniProtKB:Q13485, Arg-361, CHEBI:29950 associated_with_disease_progression DOID:0050787 juvenile polyposis syndrome PMID:9811934 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_019572 20080301 PRO:CNA