PR:000000114 hNOG/var:I220N UniProtKB:Q13253, Ile-220, CHEBI:50347 | noggin sequence variant 7 (human) "A noggin (human) that has an Asn residue at the position equivalent to Ile-220 of the amino acid sequence represented by UniProtKB:Q13253. UniProtKB:Q13253, Ile-220, CHEBI:50347." [PMID:10080184, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050788 proximal symphalangism |
PMID:10080184 |