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Q24632692-98204A4F-8F81-452D-93AB-01A919D46786
Q24632692-98204A4F-8F81-452D-93AB-01A919D46786
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24632692-98204A4F-8F81-452D-93AB-01A919D46786
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
P2860
Q24632692-98204A4F-8F81-452D-93AB-01A919D46786
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24632692-98204A4F-8F81-452D-93AB-01A919D46786
rank
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Statement
wasDerivedFrom
9e9b163f8de2a340a8be4a2af9abef1e9304bf3c
P2860
Hsp47: a collagen-specific molecular chaperone.