PR:000000348 hACVRL1/var:F425V UniProtKB:P37023, Phe-425, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 38 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Phe-425, CHEBI:30015." [PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15712270 |