PR:000000108 hNOG/var:P223L UniProtKB:Q13253, Pro-223, CHEBI:30006 | noggin sequence variant 10 (human) "A noggin (human) that has a Leu residue at the position equivalent to Pro-223 of the amino acid sequence represented by UniProtKB:Q13253. UniProtKB:Q13253, Pro-223, CHEBI:30006." [PMID:10080184, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050788 proximal symphalangism |
PMID:10080184 |