PR:000000438 hGDF5/var:R438L UniProtKB:P43026, Arg-438, CHEBI:30006 | growth/differentiation factor 5 sequence variant 2 (human) "A growth/differentiation factor 5 (human) that has a Leu residue at the position equivalent to Arg-438 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Arg-438, CHEBI:30006." [PMID:16532400, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050794 multiple synostoses syndrome |
PMID:16532400 |