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Q28262263-978A73EA-C96D-48C1-9174-126C1BB5BE5F
Q28262263-978A73EA-C96D-48C1-9174-126C1BB5BE5F
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Statement
http://www.wikidata.org/entity/statement/Q28262263-978A73EA-C96D-48C1-9174-126C1BB5BE5F
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation
P2860
Q28262263-978A73EA-C96D-48C1-9174-126C1BB5BE5F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28262263-978A73EA-C96D-48C1-9174-126C1BB5BE5F
rank
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wasDerivedFrom
31bb0ef2b065fd598fd471825dd589e373ccc185
P2860
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia