PR:000000370 hSMAD4/var:G386D UniProtKB:Q13485, Gly-386, CHEBI:29958 | smad4 sequence variant 4 (human) "A mothers against decapentaplegic homolog 4 (human) that has an Asp residue at the position equivalent to Gly-386 of the amino acid sequence represented by UniProtKB:Q13485. UniProtKB:Q13485, Gly-386, CHEBI:29958." [PMID:15031030, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:15031030 |