PR:000000112 hNOG/var:R204L UniProtKB:Q13253, Arg-204, CHEBI:30006 | noggin sequence variant 5 (human) "A noggin (human) that has a Leu residue at the position equivalent to Arg-204 of the amino acid sequence represented by UniProtKB:Q13253. UniProtKB:Q13253, Arg-204, CHEBI:30006." [PMID:11545688, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050789 tarsal-carpal coalition syndrome |
PMID:11545688 |