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Q53058359-44E1BB81-B67C-408A-AA07-D89544F0F75A
Q53058359-44E1BB81-B67C-408A-AA07-D89544F0F75A
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http://www.wikidata.org/entity/statement/Q53058359-44E1BB81-B67C-408A-AA07-D89544F0F75A
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
P2860
Q53058359-44E1BB81-B67C-408A-AA07-D89544F0F75A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53058359-44E1BB81-B67C-408A-AA07-D89544F0F75A
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wasDerivedFrom
1ead6291dd1b15422fb32f241d5208f3fada1204
P2860
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.