PR:000000356 hACVRL1/var:R67W UniProtKB:P37023, Arg-67, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 5 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:29954." [PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15712270 |