PR:000000358 hACVRL1/var:N96D UniProtKB:P37023, Asn-96, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 7 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asn-96, CHEBI:29958." [PMID:10694922, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10694922 |