PR:000000350 hACVRL1/var:R67Q UniProtKB:P37023, Arg-67, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 4 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:30011." [PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682; PMID:9245985 |