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Q53338189-22449C98-DE60-4430-83B1-1CD57066D40C
Q53338189-22449C98-DE60-4430-83B1-1CD57066D40C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53338189-22449C98-DE60-4430-83B1-1CD57066D40C
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
P2860
Q53338189-22449C98-DE60-4430-83B1-1CD57066D40C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53338189-22449C98-DE60-4430-83B1-1CD57066D40C
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wasDerivedFrom
0ecd3a8e2f50317772e1053a70404f71fd643b77
P2860
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.