PR:000000368 hSMAD4/var:G352R UniProtKB:Q13485, Gly-352, CHEBI:29952 | smad4 sequence variant 2 (human) "A mothers against decapentaplegic homolog 4 (human) that has an Arg residue at the position equivalent to Gly-352 of the amino acid sequence represented by UniProtKB:Q13485. UniProtKB:Q13485, Gly-352, CHEBI:29952." [PMID:12417513, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12417513 |