PR:000000367 hSMAD4/var:E330G UniProtKB:Q13485, Glu-330, CHEBI:29947 | smad4 sequence variant 1 (human) "A mothers against decapentaplegic homolog 4 (human) that has a Gly residue at the position equivalent to Glu-330 of the amino acid sequence represented by UniProtKB:Q13485. UniProtKB:Q13485, Glu-330, CHEBI:29947." [PMID:12417513, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12417513 |