PR:000000144 hBMPR1A/var:M470T UniProtKB:P36894, Met-470, CHEBI:30013 | BMP receptor type-1A sequence variant 8 (human) "A bone morphogenetic protein receptor type-1A (human) that has a Thr residue at the position equivalent to Met-470 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Met-470, CHEBI:30013." [PMID:12630959, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12630959 |